Kabuki syndrome
Gene: KMT2DEnsemblGeneIds (GRCh38): ENSG00000167548
EnsemblGeneIds (GRCh37): ENSG00000167548
OMIM: 602113, Gene2Phenotype
KMT2D is in 21 panels
4 reviews
Richard Scott (North Thames GMC/UCL)
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Confirmed DD gene for Kabuki syndrome, and all reviewers agree.Created: 3 May 2016, 9:12 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Kabuki syndrome 1, OMIM:147920
- OMIM
- 602113
- Clinvar variants
- Variants in KMT2D
- Penetrance
- Complete
- Publications
- 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
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Intestinal failure or congenital diarrhoea
- Structural eye disease
- Monogenic short stature
- Choanal atresia
- Fetal hydrops
- Congenital hyperinsulinism
- Intellectual disability
- Fetal anomalies
- Osteogenesis imperfecta
- IUGR and IGF abnormalities
- Skeletal dysplasia
- DDG2P
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: KMT2D were changed from Kabuki Syndrome; Kabuki Syndrome Type 1 to Kabuki syndrome 1, OMIM:147920
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for KMT2D were set to PMID: 22126750; 22901312; 20711175; 21671394; 21607748; 24633898
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for KMT2D were set to Kabuki Syndrome; Kabuki Syndrome Type 1
Set publications
Ellen McDonagh (Genomics England Curator)Publications for KMT2D were set to PMID: 22126750; 22901312; 20711175; 20711175; 21671394; 21607748; 24633898
Set publications
Ellen McDonagh (Genomics England Curator)Publications for KMT2D were set to 22126750; 22901312; 20711175; 20711175; 21671394; 21607748; 24633898
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for KMT2D was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)KMT2D was added to Kabuki syndromepanel. Sources: Eligibility statement prior genetic testing
Added New Source
Eik Haraldsdottir (Genomics England)KMT2D was added to Kabuki syndromepanel. Sources: UKGTN
Added New Source
Eik Haraldsdottir (Genomics England)KMT2D was added to Kabuki syndromepanel. Sources: Emory Genetics Laboratory
Added New Source
Eik Haraldsdottir (Genomics England)KMT2D was added to Kabuki syndromepanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Eik Haraldsdottir (Genomics England)KMT2D was added to Kabuki syndromepanel. Sources: Eligibility Statements for GeL