Skeletal dysplasia
Gene: KMT2D
KMT2D (lysine methyltransferase 2D)
EnsemblGeneIds (GRCh38): ENSG00000167548
EnsemblGeneIds (GRCh37): ENSG00000167548
OMIM: 602113, Gene2Phenotype
KMT2D is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000167548
EnsemblGeneIds (GRCh37): ENSG00000167548
OMIM: 602113, Gene2Phenotype
KMT2D is in 21 panels
2 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
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
Eleanor Williams (Genomics England Curator)
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Kabuki syndrome 1 - 147920
- OMIM
- 602113
- Clinvar variants
- Variants in KMT2D
- Penetrance
- None
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Deafness and congenital structural abnormalities
- DDG2P
- Intestinal failure or congenital diarrhoea
- Intellectual disability
- Holoprosencephaly - NOT chromosomal
- Monogenic short stature
- COVID-19 research
- Choanal atresia
- Osteogenesis imperfecta
- Fetal hydrops
- Clefting
- Congenital hyperinsulinism
- IUGR and IGF abnormalities
- Structural eye disease
- Fetal anomalies
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Anophthalmia or microphthalmia
- Kabuki syndrome
- CAKUT
History Filter Activity
21 Nov 2019, Gel status: 3
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: kmt2d has been classified as Green List (High Evidence).
21 Nov 2019, Gel status: 1
Set mode of inheritance
Eleanor Williams (Genomics England Curator)Mode of inheritance for gene: KMT2D was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
6 May 2019, Gel status: 1
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Kabuki syndrome 1 - 147920 for gene: KMT2D
6 Mar 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: KMT2D was added gene: KMT2D was added to Skeletal dysplasia. Sources: NHS GMS Mode of inheritance for gene: KMT2D was set to