Congenital hyperinsulinism
Gene: KMT2DEnsemblGeneIds (GRCh38): ENSG00000167548
EnsemblGeneIds (GRCh37): ENSG00000167548
OMIM: 602113, Gene2Phenotype
KMT2D is in 21 panels
2 reviews
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
PMID: 29907798 reports 9 infants with Kabuki syndrome (5 with pathogenic variants in KMT2D and 4 with pathogenic variants in KDM6A) and congenital hyperinsulinism. The authors concluded that Kabuki syndrome 'may account for as much as 1% of patients diagnosed with HI'.Created: 24 Jan 2019, 2:33 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Kabuki syndrome 1
Publications
- PMID: 29907798
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: KMT2D; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Autosomal dominant neonatal hypoglycaemia as part of Kabuki syndrome. This syndrome is a rare congenital disorder with a characteristic facial appearance, poor postnatal growth, short stature, variable congenital malformations (cleft palate and cardiovascular defects), learning difficulties, seizures and neonatal hypoglycaemia.Created: 11 Jan 2019, 2:24 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Phenotypes
-
- Kabuki syndrome 1, 147920
- Autosomal dominant neonatal hypoglycaemia as part of Kabuki syndrome
- OMIM
- 602113
- Clinvar variants
- Variants in KMT2D
- Penetrance
- None
- Publications
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Deafness and congenital structural abnormalities
- DDG2P
- Intestinal failure or congenital diarrhoea
- Intellectual disability
- 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
Ivone Leong (Genomics England Curator)Phenotypes for gene: KMT2D were changed from Kabuki syndrome 1 to Kabuki syndrome 1, 147920; Autosomal dominant neonatal hypoglycaemia as part of Kabuki syndrome
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: KMT2D were changed from to Kabuki syndrome 1
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: KMT2D were set to
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: KMT2D was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)Gene: kmt2d has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: KMT2D was added gene: KMT2D was added to Congenital hyperinsulinism. Sources: NHS GMS Mode of inheritance for gene: KMT2D was set to