Osteogenesis imperfecta
Gene: SEC24D
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: greenCreated: 3 Apr 2019, 4:08 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis Imperfecta, Cole Carpenter syndrome
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cole-Carpenter syndrome
Publications
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.
https://oi.gene.le.ac.uk/home.php?select_db=SEC24DCreated: 8 Dec 2015, noon
Source NHS GMS was added to SEC24D. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Phenotypes for SEC24D were set to Cole-Carpenter syndrome; Osteogenesis Imperfecta, Cole Carpenter syndrome; SYNDROMIC OSTEOGENESIS IMPERFECTA
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene SEC24D was set to BIALLELIC, autosomal or pseudoautosomal
SEC24D was added to Osteogenesis Imperfecta panel. Source: Literature
SEC24D was added to Osteogenesis Imperfecta panel. Sources: Expert Review,Literature