Clefting
Gene: KMT2DEnsemblGeneIds (GRCh38): ENSG00000167548
EnsemblGeneIds (GRCh37): ENSG00000167548
OMIM: 602113, Gene2Phenotype
KMT2D is in 21 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Comment on list classification: There is enough evidence from the curated sources, literature and expert review to make change the status of this gene to GreenCreated: 8 Feb 2017, 6:17 p.m.
Comment on publications: Added publications that support pertinent cases for this disorder.Created: 8 Feb 2017, 6:14 p.m.
Comment on phenotypes: added type and MIM idCreated: 8 Feb 2017, 5:57 p.m.
Usha Kini (Oxford Centre for Genomic Medicine)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Kabuki syndrome
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
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Literature
- Phenotypes
-
- Kabuki syndrome 1, 147920
- OMIM
- 602113
- Clinvar variants
- Variants in KMT2D
- Penetrance
- Complete
- 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
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
Set publications
Rebecca Foulger (Genomics England curator)Publications for KMT2D were set to 20711175; 21671394; 22126750; 26049589; 25142838
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Louise Daugherty (Genomics England Curator)KMT2D was added to Cleftingpanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN,Literature
Set publications
Louise Daugherty (Genomics England Curator)Publications for KMT2D were set to 20711175;21671394;22126750
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for KMT2D were set to Kabuki syndrome 1, 147920
Created
Usha Kini (Oxford Centre for Genomic Medicine)KMT2D was created by Ushak
Added New Source
Usha Kini (Oxford Centre for Genomic Medicine)KMT2D was added to Cleftingpanel. Sources: Expert Review