Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: KMT2DEnsemblGeneIds (GRCh38): ENSG00000167548
EnsemblGeneIds (GRCh37): ENSG00000167548
OMIM: 602113, Gene2Phenotype
KMT2D is in 21 panels
3 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
GeneReviews don't mention CSS. Topa et al state that CSS has been rarely described. Their case also had a 10q22.3q23.1del. Armstrong et al state 6% of 48 clinically confirmed cases have CSS (molecular cause unknown). Martinez-Lage 2010 state CSS is 'rarely documented', but may be a relatively frequent feature, and review reported cases. ; Review on behalf of Tracy Lester/Andrew WilkieCreated: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Kabuki syndrome 147920
Publications
Eleanor Williams (Genomics England Curator)
Associated with Kabuki syndrome (#147920) in OMIM with many cases reported.Created: 14 Aug 2019, 1:03 p.m. | Last Modified: 14 Aug 2019, 1:03 p.m.
Panel Version: 1.124
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: KMT2D; Suggested initial gene rating: greenCreated: 5 Mar 2019, 11:21 a.m.
Andrew Wilkie (University of Oxford)
Craniosynostosis is a recognised but low frequency complication of Kabuki syndrome. Diagnosis requires relevant mutation type and clinical features of Kabuki.Created: 15 Sep 2015, 6:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Kabuki syndrome
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- Kabuki syndrome 1, OMIM: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
- Intellectual disability
- Intestinal failure or congenital diarrhoea
- Holoprosencephaly - NOT chromosomal
- Monogenic short stature
- COVID-19 research
- Choanal atresia
- Osteogenesis imperfecta
- Fetal hydrops
- Clefting
- Congenital hyperinsulinism
- IUGR and IGF abnormalities
- Structural eye disease
- Fetal anomalies
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Anophthalmia or microphthalmia
- Kabuki syndrome
- CAKUT
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: KMT2D were changed from Kabuki syndrome 147920; 147920 to Kabuki syndrome 1, OMIM:147920
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Kabuki syndrome 147920 for gene: KMT2D
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to KMT2D. Rating Changed from Green List (high evidence) to Green List (high evidence)
Set Phenotypes
Richard Scott (Genomics England Curator)Phenotypes for KMT2D were set to 147920
Set publications
Richard Scott (Genomics England Curator)Publications for KMT2D were set to 20672944; 21280141
Set Mode of Inheritance
Richard Scott (Genomics England Curator)Mode of inheritance for KMT2D was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)KMT2D was added to Craniosynostosis syndromespanel. Sources: Expert list