Skeletal dysplasia
Gene: KMT2D
Clinical features include postnatal dwarfism, short fifth finger and radiographic abnormalities -several cases ; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Kabuki syndrome 1 - 147920
Comment on list classification: Promoting from red to green as >3 cases reported and phenotype is relevant.Created: 21 Nov 2019, 1:07 a.m. | Last Modified: 21 Nov 2019, 1:07 a.m.
Panel Version: 1.230
Associated with Kabuki syndrome 1 #147920 (AD) in OMIM. Short stature and some skeletal features (spine, hips) listed as clinical features.
> 3 cases reported in OMIM.Created: 21 Nov 2019, 1:06 a.m. | Last Modified: 21 Nov 2019, 1:06 a.m.
Panel Version: 1.228
Associated with Kabuki syndrome 1 #147920 (AD) in OMIM. Short stature and some skeletal features (spine, hips) listed as clinical features.
> 3 cases reported in OMIM.Created: 21 Nov 2019, 1:05 a.m. | Last Modified: 21 Nov 2019, 1:05 a.m.
Panel Version: 1.228
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: KMT2D; Initial rating suggestion: green if SDCreated: 6 Mar 2019, 11:36 a.m.
Gene: kmt2d has been classified as Green List (High Evidence).
Mode of inheritance for gene: KMT2D was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Kabuki syndrome 1 - 147920 for gene: KMT2D
gene: KMT2D was added gene: KMT2D was added to Skeletal dysplasia. Sources: NHS GMS Mode of inheritance for gene: KMT2D was set to