Skeletal dysplasia
Gene: SETD2
Overgrowth (tall stature) syndromes with skeletal involvement - >3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Luscan-Lumish syndrome 616831
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: SETD2; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Comment when marking as ready: Associated with phenotype in OMIM. At least four variants reportedCreated: 29 Jul 2016, 2:30 p.m.
Tier 2Created: 17 Jun 2016, 8:08 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Luscan-Lumish (overgrowth) syndrome 616831
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Luscan-Lumish syndrome 616831 for gene: SETD2
Source NHS GMS was added to SETD2. 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 SETD2 were set to Luscan-Lumish syndrome 616831
Mode of inheritance for SETD2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
SETD2 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list
SETD2 was added to Unexplained skeletal dysplasiapanel. Sources:
SETD2 was created by sleigh