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Skeletal dysplasia

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

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

OI and decreasing bone density gp of SD - >3 cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cole-Carpenter syndrome; Osteogenesis Imperfecta, Cole Carpenter syndrome; SYNDROMIC OSTEOGENESIS IMPERFECTA

Publications

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: SEC24D; Initial rating suggestion: green
Created: 6 Mar 2019, 11:37 a.m.
Created: 6 Mar 2019, 11:37 a.m.

Panel version: 1.146

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Cole-Carpenter syndrome 2 616294
Created: 8 Jul 2016, 11:18 a.m.
Created: 8 Jul 2016, 11:18 a.m.

Panel version: 0.291

Details

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

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Osteogenesis Imperfecta, Cole Carpenter syndrome; Cole-Carpenter syndrome; SYNDROMIC OSTEOGENESIS IMPERFECTA for gene: SEC24D

6 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)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

8 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

8 Jul 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for SEC24D was changed to BIALLELIC, autosomal or pseudoautosomal

18 May 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

SEC24D was added to Unexplained skeletal dysplasiapanel. Sources: Expert Review,Literature,Expert Review Green

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SEC24D was created by sleigh