This Panel is marked as Deleted
Kidneyome_SuperPanel_KidGen_VCGS
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
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 602113
- Clinvar variants
- Variants in KMT2D
- Penetrance
- None
- Panels with this gene
-
- Skeletal dysplasia
- Structural eye disease
- Kabuki syndrome
- Fetal anomalies
- Clefting
- CAKUT
- Anophthalmia or microphthalmia
- Holoprosencephaly - NOT chromosomal
- Deafness and congenital structural abnormalities
- COVID-19 research
- Intestinal failure or congenital diarrhoea
- Choanal atresia
- Fetal hydrops
- Monogenic short stature
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Intellectual disability
- Congenital hyperinsulinism
- Osteogenesis imperfecta
- DDG2P
- IUGR and IGF abnormalities
- Primary immunodeficiency or monogenic inflammatory bowel disease
History Filter Activity
23 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: KMT2D was added gene: KMT2D was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KMT2D was set to Unknown