CAKUT
Gene: KMT2DEnsemblGeneIds (GRCh38): ENSG00000167548
EnsemblGeneIds (GRCh37): ENSG00000167548
OMIM: 602113, Gene2Phenotype
KMT2D is in 21 panels
2 reviews
Ivone Leong (Genomics England Curator)
Comment on list classification: New gene added by expert reviewer. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. Based on the evidence and review there is enough evidence to support a gene-disease association; therefore, this gene has been given Green status.Created: 11 May 2020, 10:24 a.m. | Last Modified: 11 May 2020, 10:24 a.m.
Panel Version: 1.97
Zornitza Stark (Australian Genomics)
Renal malformations are part of the phenotype.
Sources: Expert listCreated: 16 Jan 2020, 4:13 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Kabuki syndrome 1, MIM# 147920
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Kabuki syndrome 1, 147920
- OMIM
- 602113
- Clinvar variants
- Variants in KMT2D
- Penetrance
- None
- Publications
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Deafness and congenital structural abnormalities
- DDG2P
- Intestinal failure or congenital diarrhoea
- Clefting
- Monogenic short stature
- COVID-19 research
- Choanal atresia
- Osteogenesis imperfecta
- Fetal hydrops
- Congenital hyperinsulinism
- IUGR and IGF abnormalities
- Structural eye disease
- Skeletal dysplasia
- Fetal anomalies
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Holoprosencephaly - NOT chromosomal
- Anophthalmia or microphthalmia
- Kabuki syndrome
- Intellectual disability
- CAKUT
History Filter Activity
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: kmt2d has been classified as Green List (High Evidence).
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: KMT2D were changed from Kabuki syndrome 1, MIM# 147920 to Kabuki syndrome 1, 147920
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: KMT2D was added gene: KMT2D was added to CAKUT. Sources: Expert list Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KMT2D were set to 23535010 Phenotypes for gene: KMT2D were set to Kabuki syndrome 1, MIM# 147920 Review for gene: KMT2D was set to GREEN gene: KMT2D was marked as current diagnostic