Congenital hyperinsulinismGene: KDM6A
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
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Kabuki syndrome 2
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: KDM6A; 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: X-linked 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: KDM6A were changed from Kabuki syndrome 2 to Kabuki syndrome 2, 300867; X-linked dominant neonatal hypoglycaemia as part of Kabuki syndrome
Phenotypes for gene: KDM6A were changed from to Kabuki syndrome 2
Publications for gene: KDM6A were set to
Mode of inheritance for gene: KDM6A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Gene: kdm6a has been classified as Green List (High Evidence).
gene: KDM6A was added gene: KDM6A was added to Congenital hyperinsulinism. Sources: NHS GMS Mode of inheritance for gene: KDM6A was set to