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  3. SEC24D
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Osteogenesis imperfecta

Gene: SEC24D

Green List (high evidence)
SEC24D (SEC24 homolog D, COPII coat complex component)
EnsemblGeneIds (GRCh38): ENSG00000150961
EnsemblGeneIds (GRCh37): ENSG00000150961
OMIM: 607186, Gene2Phenotype
SEC24D is in 7 panels

6 reviews

Duncan Baker (Sheffield Genetics)

Green List (high evidence)

Created: 3 Apr 2019, 4:14 p.m.

Panel version: 1.19

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: SEC24D; Suggested initial gene rating: green
Created: 3 Apr 2019, 4:08 p.m.
Created: 3 Apr 2019, 4:08 p.m.

Panel version: 1.18

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis Imperfecta, Cole Carpenter syndrome

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cole-Carpenter syndrome

Publications

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene added by a reviewer, with a second reviewer agreeing it should be added. Is a probable DD gene for syndromic OI and associated with Cole-Carpenter syndrome in OMIM.
Created: 12 May 2016, 1:51 p.m.
Created: 12 May 2016, 1:51 p.m.

Panel version: 0.39

Raymond Dalgleish (University of Leicester)

https://oi.gene.le.ac.uk/home.php?select_db=SEC24D
Created: 8 Dec 2015, noon
Created: 8 Dec 2015, noon

Panel version: 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Cole-Carpenter syndrome
  • Osteogenesis Imperfecta, Cole Carpenter syndrome
  • SYNDROMIC OSTEOGENESIS IMPERFECTA
OMIM
607186
Clinvar variants
Variants in SEC24D
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

13 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to SEC24D. Rating Changed from Green List (high evidence) to Green List (high evidence)

12 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SEC24D were set to Cole-Carpenter syndrome; Osteogenesis Imperfecta, Cole Carpenter syndrome; SYNDROMIC OSTEOGENESIS IMPERFECTA

12 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Oct 2015, Gel status: 0

Set Mode of Inheritance

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Model of inheritance for gene SEC24D was set to BIALLELIC, autosomal or pseudoautosomal

9 Oct 2015, Gel status: 0

Added New Source

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

SEC24D was added to Osteogenesis Imperfecta panel. Source: Literature

9 Oct 2015, Gel status: 0

Added New Source

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

SEC24D was added to Osteogenesis Imperfecta panel. Sources: Expert Review,Literature