Congenital hyperinsulinismGene: KMT2D
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
Kabuki syndrome 1
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.
Phenotypes for gene: KMT2D were changed from Kabuki syndrome 1 to Kabuki syndrome 1, 147920; Autosomal dominant neonatal hypoglycaemia as part of Kabuki syndrome
Phenotypes for gene: KMT2D were changed from to Kabuki syndrome 1
Publications for gene: KMT2D were set to
Mode of inheritance for gene: KMT2D was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: kmt2d has been classified as Green List (High Evidence).
gene: KMT2D was added gene: KMT2D was added to Congenital hyperinsulinism. Sources: NHS GMS Mode of inheritance for gene: KMT2D was set to