Skeletal dysplasia
Gene: CRTAP
OI and decreasing bone density gp of SD. Many cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis imperfecta, type VII 610682
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: CRTAP; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 9:29 a.m.
Comment when marking as ready: Numerous variants reported in this phenotypeCreated: 13 Jul 2016, 8:34 a.m.
Tier 1Created: 17 Jun 2016, 8:02 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis imperfecta, type VII 610682
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Osteogenesis imperfecta, type VII 610682 for gene: CRTAP
Source NHS GMS was added to CRTAP. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for CRTAP were set to Osteogenesis imperfecta, type VII 610682
CRTAP was added to Unexplained skeletal dysplasiapanel. Source: Expert CRTAP was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen CRTAP was added to Unexplained skeletal dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services CRTAP was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory CRTAP was added to Unexplained skeletal dysplasiapanel. Source: UKGTN CRTAP was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Green Model of inheritance for gene CRTAP was set to BIALLELIC, autosomal or pseudoautosomal
CRTAP was added to Unexplained skeletal dysplasiapanel. Sources:
CRTAP was created by sleigh