Re: [hgvs-nomenclature] Follow Up 1: Elsevier Permission Request < Francesc (Paco) Palau: Nelson Pediatric Textbook of Rare Diseases, 1, 9780443115110 > <DEL_Palau_1_chaithanyaa> Table 2.3

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Reece Hart

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Sep 22, 2025, 8:04:29 PM9/22/25
to Permissions Seeking (ELS), hgvs-nom...@googlegroups.com, enqu...@hgvs.org
Dear Athulya-

Please note that the hgvs.org website is no longer maintained. The HGVS Nomenclature is now at https://hgvs-nomenclature.org/ . The most recent publications are listed there as well.

The table you identify is antiquated. Please refer to the update at https://hgvs-nomenclature.org/stable/background/refseq/#reference-sequence-types .

Finally, the entire HGVS Nomenclature website is released under the CC0 license, which obviates granting explicit permission to individual groups. Please see the bottom left of any page for the link.

Best wishes,
Reece
 

On Mon, Sep 22, 2025 at 2:31 AM 'Permissions Seeking (ELS)' via HGVS Nomenclature <hgvs-nom...@googlegroups.com> wrote:

Hi Team,

 

I hope you’re doing well.

 

I wanted to follow up once more regarding the permission request outlined in my previous email. We would greatly appreciate it if you could review the request and share your approval or any updates at your earliest convenience, as we are working to stay on track with our publication timeline.

 

Thank you again for your time and support. I look forward to hearing from you.

 

Best Regards,

Athulya

 

Athulya Ajith

Copyrights Specialist, Permission Team

ELSEVIER | HCM Publishing Services

a.chai...@elsevier.com

 

www.elsevier.com

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From: Permissions Seeking (ELS)
Sent: Monday, September 8, 2025 11:31 PM
To: 'hgvs-nom...@googlegroups.com' <hgvs-nom...@googlegroups.com>; 'enqu...@hgvs.org' <enqu...@hgvs.org>
Subject: Elsevier Permission Request < Francesc (Paco) Palau: Nelson Pediatric Textbook of Rare Diseases, 1, 9780443115110 > <DEL_Palau_1_chaithanyaa> Table 2.3

 

Dear Team,

 

Greetings from Elsevier!

 

I am Athulya Ajith working as a Copyrights specialist in Elsevier. We are interested to use a figure copyrighted to you in our upcoming publication and we request your permission to use it in our Book. I have listed the details of the request below.

 

Book Title

 

Nelson Pediatric Textbook of Rare Diseases, 1ed

Author of the Book

Francesc (Paco) Palau, Robert Kliegman

Author of the Chapter

Francesc Palau, Guerau Fernandez, Janet Hoenicka, Rafael Artuch and Jordi Muchart

Language

English

Format

Print and Electronic

Distribution

Worldwide

 

We request your permission for Elsevier and its licensees, affiliates, successors and assigns to use, reproduce or, if it is necessary, to redraw or modify the material listed below in this and all subsequent editions of this Elsevier work and all revisions, versions, derivative works, translations, ancillaries, adaptations, supplementary materials, custom editions, and in advertising and promotion thereof, in all languages, in all formats and media now known or hereafter developed, throughout the world and in perpetuity. We will give full credit to the original source.

 

Source reference: http://www.hgvs.org/mutnomen/accepted002.html);  Accessed September 08, 2025.

Table 2.3

 

 

If you are not the owner of the material for which we hereby apply for permission to reproduce, would you please supply the name and address of the person to whom the requests should be directed?

 

And if permission is granted, please respond by e-mail, fax or post.

 

I look forward to hearing from you. Many thanks in advance and have a great day further!

 

Best Regards,

Athulya

 

Athulya Ajith

Copyrights Specialist, Permission Team

ELSEVIER | HCM Publishing Services

a.chai...@elsevier.com

 

www.elsevier.com

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Permissions Seeking

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Sep 23, 2025, 2:34:19 AM9/23/25
to re...@harts.net, a.chai...@elsevier.com, hgvs-nom...@googlegroups.com, enqu...@hgvs.org

 

Dear Reece Hart,
 
Many thanks for sharing the details. It was helpful.
 
We will proceed using the requested content based on the open access license https://creativecommons.org/publicdomain/zero/1.0/?ref=chooser-v1
 
Best wishes!
 
Kind regards,
Thomas Rexson Yesudoss
Customer Relationship Specialist
ELSEVIER | HCM - Health Content Management
 


From: Administrator
Date: Tuesday, September 23, 2025 12:04 AM GMT

 
Thank you for contacting Elsevier Permissions Seeking Team. This is an auto-reply confirming that your email has been received.
 
Your unique reference number is 250923-003223.
 
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From: Reece Hart
Date: Tuesday, September 23, 2025 12:04 AM GMT


This email is for use by the intended recipient and contains information that may be confidential. If you are not the intended recipient, please notify the sender by return email and delete this email from your inbox. Any unauthorized use or distribution of this email, in whole or in part, is strictly prohibited and may be unlawful. Any price quotes contained in this email are merely indicative and will not result in any legally binding or enforceable obligation. Unless explicitly designated as an intended e-contract, this email does not constitute a contract offer, a contract amendment, or an acceptance of a contract offer.

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Fokkema, I.F.A.C. (HG)

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Sep 23, 2025, 2:50:26 AM9/23/25
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Dear Thomas,

In addition to Reece's comment, please note that the table you showed contains incorrect information. The link Reece referred to, contains the correct information. Please have the authors revise the table based on the updated information. For instance, the information on the RNA numbering is incorrect. The correct information is indicated on the page Reece linked to:

"nucleotide numbering for an RNA reference sequencing follows that of the associated coding or non-coding DNA reference sequence; nucleotide r.123, relates to c.123 or n.123."

Also, LRG reference sequences are no longer created, and therefore, are no longer recommended.

Best regards,

Ivo Fokkema

Permissions Seeking (ELS)

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Oct 3, 2025, 9:20:09 AM10/3/25
to Fokkema, I.F.A.C. (HG), re...@harts.net, hgvs-nom...@googlegroups.com

Hi Team,

 

We have now updated the table as per the suggestion. I have attached the updated table herewith the email for your reference.

 

Thank you!

 

Best Regards,

Athulya

 

Athulya Ajith

Copyrights Specialist, Permission Team

ELSEVIER | HCM Publishing Services

a.chai...@elsevier.com

 

www.elsevier.com

X | Facebook | LinkedIn

 

From: Fokkema, I.F.A.C. (HG) <I.F.A.C...@LUMC.nl>
Sent: Tuesday, September 23, 2025 12:20 PM
To: re...@harts.net; Permissions Seeking (ELS) <Permissi...@elsevier.com>
Cc: Ajith, Athulya (ELS-CHN) <a.chai...@elsevier.com>; hgvs-nom...@googlegroups.com
Subject: Re: [hgvs-nomenclature] Follow Up 1: Elsevier Permission Request < Francesc (Paco) Palau: Nelson Pediatric Textbook of Rare Diseases, 1, 9780443115110 > <DEL_Palau_1_chaithanyaa> Table 2.3 [250923-003223]

 

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Table 2-3_updated.docx

Fokkema, I.F.A.C. (HG)

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Oct 3, 2025, 11:56:34 AM10/3/25
to Permissions Seeking (ELS), re...@harts.net, hgvs-nom...@googlegroups.com
Dear Athulya,

Thank you for the updated table. Please note that the description for RNA reference sequences remains incorrect. The r. only starts counting at the first nucleotide for non-coding transcripts. For coding transcripts, the r. starts counting at the c.1. Please see:

"nucleotide numbering for an RNA reference sequencing follows that of the associated coding or non-coding DNA reference sequence; nucleotide r.123, relates to c.123 or n.123."

Best regards,

Ivo Fokkema



From: Permissions Seeking (ELS) <Permissi...@elsevier.com>
Sent: Friday, October 3, 2025 07:13
To: Fokkema, I.F.A.C. (HG) <I.F.A.C...@LUMC.nl>; re...@harts.net <re...@harts.net>
Cc: hgvs-nom...@googlegroups.com <hgvs-nom...@googlegroups.com>
Subject: RE: [hgvs-nomenclature] Follow Up 1: Elsevier Permission Request < Francesc (Paco) Palau: Nelson Pediatric Textbook of Rare Diseases, 1, 9780443115110 > <DEL_Palau_1_chaithanyaa> Table 2.3 [250923-003223]
 

Permissions Seeking

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Oct 7, 2025, 7:35:57 AM10/7/25
to re...@harts.net, a.chai...@elsevier.com, i.f.a.c...@lumc.nl, hgvs-nom...@googlegroups.com

 

Dear Ivo Fokkema,
 
Thank you for your email.
 
We will check with editorial and make necessary corrections.
 
Kind regards,
Thomas Rexson Yesudoss
Customer Relationship Specialist
ELSEVIER | HCM - Health Content Management
 


From: Ivo Fokkema
Date: Friday, October 03, 2025 03:57 PM GMT
/span>


From: Thomas Rexson Yesudoss
Date: Monday, September 29, 2025 03:26 AM GMT

Dear Ivo Fokkema,
 
Thank you for keeping us informed.
 
We will check this internally with our editorials on this and confirm you shortly.
 
Kind regards,
Thomas Rexson Yesudoss
Customer Relationship Specialist
ELSEVIER | HCM - Health Content Management
 


From: post master
Date: Saturday, September 27, 2025 06:13 AM GMT

Hello, this is the mail server on mailgwln05.rightnowtech.com.

I am sending you this message to inform you on the delivery status of a
message you previously sent. Immediately below you will find a list of
the affected recipients; also attached is a Delivery Status Notification
(DSN) report in standard format, as well as the headers of the original
message.

<enqu...@hgvs.org> delivery failed; will not continue trying

Unsupported message type - delivery-status, message attachment discarded.


From: Ivo Fokkema
Date: Tuesday, September 23, 2025 06:50 AM GMT


Dear Thomas,

In addition to Reece's comment, please note that the table you showed contains incorrect information. The link Reece referred to, contains the correct information. Please have the authors revise the table based on the updated information. For instance, the information on the RNA numbering is incorrect. The correct information is indicated on the page Reece linked to:

"nucleotide numbering for an RNA reference sequencing follows that of the associated coding or non-coding DNA reference sequence; nucleotide r.123, relates to c.123 or n.123."

Also, LRG reference sequences are no longer created, and therefore, are no longer recommended.

Best regards,

Ivo Fokkema




From: Thomas Rexson Yesudoss
Date: Tuesday, September 23, 2025 06:10 AM GMT
[---002:008613:07877---]

Ajith, Athulya (ELS-CHN)

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Dec 18, 2025, 5:16:20 AM12/18/25
to re...@harts.net, i.f.a.c...@lumc.nl, hgvs-nom...@googlegroups.com

Dear Ivo Fokkema,

 

We have now updated the table as per the suggestion. I have attached the updated table herewith the email for your reference. Could you please let me know if  this is correct?

 

Thank you!

 

Best Regards,

Athulya

 

Athulya Ajith

Copyrights Specialist, Permission Team

ELSEVIER | HCM Publishing Services

a.chai...@elsevier.com

 

www.elsevier.com

X | Facebook | LinkedIn

 

From: Permissions Seeking <Permissi...@elsevier.com>
Sent: Tuesday, October 7, 2025 4:47 PM
To: re...@harts.net
Cc: Ajith, Athulya (ELS-CHN) <a.chai...@elsevier.com>; i.f.a.c...@lumc.nl; hgvs-nom...@googlegroups.com
Subject: Re: [hgvs-nomenclature] Follow Up 1: Elsevier Permission Request < Francesc (Paco) Palau: Nelson Pediatric Textbook of Rare Diseases, 1, 9780443115110 > <DEL_Palau_1_chaithanyaa> Table 2.3 [250923-003223]

 

 

Dear Ivo Fokkema,

 

Thank you for your email.

 

We will check with editorial and make necessary corrections.

 

Kind regards,

Thomas Rexson Yesudoss

Customer Relationship Specialist

ELSEVIER | HCM - Health Content Management

 

 


From: Ivo Fokkema


Date: Friday, October 03, 2025 03:57 PM GMT

/span>

 


From: Thomas Rexson Yesudoss
Date: Monday, September 29, 2025 03:26 AM GMT

Dear Ivo Fokkema,

 

Thank you for keeping us informed.

 

We will check this internally with our editorials on this and confirm you shortly.

 

Kind regards,

Thomas Rexson Yesudoss

Customer Relationship Specialist

ELSEVIER | HCM - Health Content Management

 

 


From: post master


Date: Saturday, September 27, 2025 06:13 AM GMT

Hello, this is the mail server on mailgwln05.rightnowtech.com.

I am sending you this message to inform you on the delivery status of a
message you previously sent. Immediately below you will find a list of
the affected recipients; also attached is a Delivery Status Notification
(DSN) report in standard format, as well as the headers of the original
message.

<enqu...@hgvs.org> delivery failed; will not continue trying

Unsupported message type - delivery-status, message attachment discarded.

From: Ivo Fokkema
Date: Tuesday, September 23, 2025 06:50 AM GMT

Dear Thomas,

 

In addition to Reece's comment, please note that the table you showed contains incorrect information. The link Reece referred to, contains the correct information. Please have the authors revise the table based on the updated information. For instance, the information on the RNA numbering is incorrect. The correct information is indicated on the page Reece linked to:

 

"nucleotide numbering for an RNA reference sequencing follows that of the associated coding or non-coding DNA reference sequence; nucleotide r.123, relates to c.123 or n.123."

 

Also, LRG reference sequences are no longer created, and therefore, are no longer recommended.

 

Best regards,

 

Ivo Fokkema

 

 

 

[---002:008613:07877---]

Table 2-3_updated.docx

Permissions Seeking (ELS)

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Dec 30, 2025, 8:57:43 AM12/30/25
to re...@harts.net, i.f.a.c...@lumc.nl, hgvs-nom...@googlegroups.com

Hi Reece,

 

Hope you will find this email well.

 

I would like to follow up with you on the below email. We have made the suggested updates to the table. Could you please let me know if this is correct?

 

Looking forward to hearing from you. Thanks in advance!

 

Best Regards,

Athulya

 

Athulya Ajith

Copyrights Specialist, Permission Team

ELSEVIER | HCM Publishing Services

a.chai...@elsevier.com

 

www.elsevier.com

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Table 2-3_updated.docx

Reece Hart

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Dec 30, 2025, 6:37:38 PM12/30/25
to Permissions Seeking (ELS), Ivo Fokkema, HGVS Nomenclature
That looks generally right to me. 

Note the double opening parentheses.

I recommend remaining the third column as "Numbering System" and in each cell define the range of numbering. For example, for genomic sequence, numbering is 1 through the length of the sequence. The problem with the current presentation is that "1" not explicitly stated as the first position. Some numbering systems would state that the first position is "0".

Permissions Seeking (ELS)

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Jan 12, 2026, 4:00:57 AM (8 days ago) Jan 12
to re...@harts.net, i.f.a.c...@lumc.nl, hgvs-nom...@googlegroups.com

Dear Reece,

 

Hope you will find this email well.

 

I have attached the updated Table herewith the email as per the suggestions.

 

Could you please review this and let me know if we have the permission to use the content.

 

Looking forward to hearing from you. Many thanks in advance.

 

Best Regards,

Athulya

 

Athulya Ajith

Copyrights Specialist, Permission Team

ELSEVIER | HCM Publishing Services

a.chai...@elsevier.com

 

www.elsevier.com

X | Facebook | LinkedIn

 

From: Permissions Seeking <Permissi...@elsevier.com>

Sent: Wednesday, December 31, 2025 11:32 AM
To: re...@harts.net

Cc: i.f.a.c...@lumc.nl; hgvs-nom...@googlegroups.com; Ajith, Athulya (ELS-CHN) <a.chai...@elsevier.com>
Subject: Re: [hgvs-nomenclature] Follow Up 1: Elsevier Permission Request < Francesc (Paco) Palau: Nelson Pediatric Textbook of Rare Diseases, 1, 9780443115110 > <DEL_Palau_1_chaithanyaa> Table 2.3 [250923-003223] [251231-005870]

 

 

Dear Reece,

Thank you for your e-mail. 

Kindly allow us to check on the below e-mail and get back to you at the earliest. 

 

Vanadhi S

Permission Helpdesk

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For queries on permission processes, please refer to FAQ. For guidance on applying for permissions and filling the permission log, please refer here

 

 


From: Administrator
Date: Tuesday, December 30, 2025 11:37 PM GMT

 
Thank you for contacting Elsevier Permissions Seeking Team. This is an auto-reply confirming that your email has been received.
 

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From: Reece Hart
Date: Tuesday, December 30, 2025 11:37 PM GMT

That looks generally right to me. 

 

Note the double opening parentheses.

 

I recommend remaining the third column as "Numbering System" and in each cell define the range of numbering. For example, for genomic sequence, numbering is 1 through the length of the sequence. The problem with the current presentation is that "1" not explicitly stated as the first position. Some numbering systems would state that the first position is "0".

 

 

Hi Reece,

This email is for use by the intended recipient and contains information that may be confidential. If you are not the intended recipient, please notify the sender by return email and delete this email from your inbox. Any unauthorized use or distribution of this email, in whole or in part, is strictly prohibited and may be unlawful. Any price quotes contained in this email are merely indicative and will not result in any legally binding or enforceable obligation. Unless explicitly designated as an intended e-contract, this email does not constitute a contract offer, a contract amendment, or an acceptance of a contract offer.

Elsevier Limited. Registered Office: 125 London Wall, London, EC2Y 5AS, Registration No. 1982084, Registered in England and Wales. Privacy Policy

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Table 2-3_updated_revised.docx

Permissions Seeking (ELS)

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Jan 14, 2026, 8:28:57 AM (6 days ago) Jan 14
to re...@harts.net, Fokkema, I.F.A.C. (HG), hgvs-nom...@googlegroups.com

URGENT:

 

Dear Team,

 

I hope you're doing well.

 

I’m following up once again regarding our permission request for the use of a figure copyrighted to you.

 

As we are nearing our final permissions deadline, your prompt response would be greatly appreciated. If permission can be granted, kindly confirm via email.

 

Please refer to the email thread below for full request details. Do let me know if any further information is needed.

 

Thank you again for your time and support.

 

Best Regards,

Athulya

 

Athulya Ajith

Copyrights Specialist, Permission Team

ELSEVIER | HCM Publishing Services

a.chai...@elsevier.com

 

www.elsevier.com

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Table 2-3_updated_revised.docx

Wagner, Alex

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Jan 14, 2026, 10:17:25 AM (5 days ago) Jan 14
to Permissions Seeking (ELS), re...@harts.net, Fokkema, I.F.A.C. (HG), hgvs-nom...@googlegroups.com
The HGVS Nomenclature is released under the CC0 1.0 Universal (CC0 1.0) Public Domain Dedication from the Creative Commons. No permission is required to use text extracted from the nomenclature. We prefer to have manuscripts cite the nomenclature when used, with direct links to relevant pages provided in instances like this table. The latter is already done here.

No concerns on my end.

- Alex

-- 

Alex H. Wagner, PhD

Principal Investigator

The Steve and Cindy Rasmussen Institute for Genomic Medicine (IGM)

Nationwide Children’s Hospital

 

Assistant Professor

Departments of Pediatrics and Biomedical Informatics

The Ohio State University College of Medicine

 

Co-Chair

HGVS Variant Nomenclature Committee

Human Genome Organization (HUGO)



**I often send emails outside of traditional business hours because it works with my schedule. Please do not feel that a response is expected outside of your regular work schedule.

 

From: 'Permissions Seeking (ELS)' via HGVS Nomenclature <hgvs-nom...@googlegroups.com>
Date: Wednesday, January 14, 2026 at 8:29 AM
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Cc: Fokkema, I.F.A.C. (HG) <i.f.a.c...@lumc.nl>, hgvs-nom...@googlegroups.com <hgvs-nom...@googlegroups.com>
Subject: FW: [hgvs-nomenclature] Follow Up 1: Elsevier Permission Request < Francesc (Paco) Palau: Nelson Pediatric Textbook of Rare Diseases, 1, 9780443115110 > <DEL_Palau_1_chaithanyaa> Table 2.3 [250923-003223] [251231-005870]

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Permissions Seeking

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Aan Joshy
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Thank you for contacting Elsevier Permissions Seeking Team. This is an auto-reply confirming that your email has been received.
 
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From: Alex Wagner
Date: Wednesday, January 14, 2026 03:17 PM GMT
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