IUGR and IGF abnormalities
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
Philip Murray (University of Manchester)
Peter Clayton (University of Manchester)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Kabuki syndrome 1, OMIM:147920
- OMIM
- 602113
- Clinvar variants
- Variants in KMT2D
- Penetrance
- Complete
- Panels with this gene
-
- Anophthalmia or microphthalmia
- Kabuki syndrome
- CAKUT
- Holoprosencephaly - NOT chromosomal
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Deafness and congenital structural abnormalities
- COVID-19 research
- Clefting
- Intestinal failure or congenital diarrhoea
- Structural eye disease
- Skeletal dysplasia
- Monogenic short stature
- Choanal atresia
- Fetal hydrops
- Congenital hyperinsulinism
- Osteogenesis imperfecta
- Intellectual disability
- IUGR and IGF abnormalities
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
History Filter Activity
14 Sep 2021, Gel status: 3
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: KMT2D were changed from Kabuki to Kabuki syndrome 1, OMIM:147920
25 Apr 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
25 Apr 2016, Gel status: 4
Set Phenotypes
emma baple (Genomics England Curator)Phenotypes for KMT2D were set to Kabuki
25 Apr 2016, Gel status: 4
Set Mode of Inheritance
emma baple (Genomics England Curator)Mode of inheritance for KMT2D was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
25 Apr 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
28 Apr 2015, Gel status: 1
Added New Source
GEL ()KMT2D was added to IUGR and IGF abnormalitiespanel. Sources: Emory Genetics Laboratory