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  2. GMS Musculoskeletal specialist test group Skeletal dysplasia
  3. SEC24D
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GMS Musculoskeletal specialist test group 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

1 review

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, 11:52 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, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Osteogenesis Imperfecta, Cole Carpenter syndrome
  • Cole-Carpenter syndrome
  • SYNDROMIC OSTEOGENESIS IMPERFECTA
OMIM
607186
Clinvar variants
Variants in SEC24D
Penetrance
None
Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: SEC24D was added gene: SEC24D was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SEC24D was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SEC24D were set to Osteogenesis Imperfecta, Cole Carpenter syndrome; Cole-Carpenter syndrome; SYNDROMIC OSTEOGENESIS IMPERFECTA