Skeletal dysplasia
Gene: XRCC4
green - multiple reports. Clinical features include short stature.; Review on behalf of Tracy Lester/Michael OldridgeCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short stature, microcephaly, and endocrine dysfunction 616541
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: XRCC4; Initial rating suggestion: green if SDCreated: 6 Mar 2019, 11:37 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 1 Aug 2016, 9:50 a.m.
Tier 2Created: 17 Jun 2016, 8:10 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short stature, microcephaly, and endocrine dysfunction 616541
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Short stature, microcephaly, and endocrine dysfunction 616541 for gene: XRCC4
Source NHS GMS was added to XRCC4. 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 XRCC4 were set to Short stature, microcephaly, and endocrine dysfunction 616541
Mode of inheritance for XRCC4 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
XRCC4 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list
XRCC4 was added to Unexplained skeletal dysplasiapanel. Sources:
XRCC4 was created by sleigh