Skeletal dysplasia
Gene: SEC24D
OI and decreasing bone density gp of SD - >3 cases; Review on behalf of Tracy LesterCreated: 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
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: greenCreated: 6 Mar 2019, 11:37 a.m.
Comment on phenotypes: Cole-Carpenter syndrome 2 616294Created: 8 Jul 2016, 11:18 a.m.
Added phenotypes Osteogenesis Imperfecta, Cole Carpenter syndrome; Cole-Carpenter syndrome; SYNDROMIC OSTEOGENESIS IMPERFECTA for gene: SEC24D
Source NHS GMS was added to SEC24D. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for SEC24D were set to Cole-Carpenter syndrome; Osteogenesis Imperfecta, Cole Carpenter syndrome; SYNDROMIC OSTEOGENESIS IMPERFECTA
Mode of inheritance for SEC24D was changed to BIALLELIC, autosomal or pseudoautosomal
SEC24D was added to Unexplained skeletal dysplasiapanel. Sources: Expert Review,Literature,Expert Review Green
SEC24D was created by sleigh