Skeletal dysplasia
Gene: DNMT3A
Not listed in SD nosology paper. Tatton-Brown-Rahman syndrome characterized by tall stature, distinctive facial appearance and ID. Several de novo cases - green if considered SD; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Tatton-Brown-Rahman syndrome 615879
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: DNMT3A; Initial rating suggestion: green if considered SDCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least five variants reportedCreated: 28 Jul 2016, 9:37 a.m.
Tier 2Created: 17 Jun 2016, 8:03 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Tatton-Brown-Rahman (overgrowth) syndrome 615879
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Tatton-Brown-Rahman syndrome 615879 for gene: DNMT3A
Source NHS GMS was added to DNMT3A. 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 DNMT3A were set to Tatton-Brown-Rahman syndrome 615879
Phenotypes for DNMT3A were set to Tatton-Brown-Rahman (overgrowth) syndrome 615879
Mode of inheritance for DNMT3A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
DNMT3A was added to Unexplained skeletal dysplasiapanel. Sources: Expert list
DNMT3AAll sources for gene: DNMT3A were removed
DNMT3A was added to Unexplained skeletal dysplasiapanel. Sources:
DNMT3A was created by sleigh