Congenital hyperinsulinism

Gene: KDM6A

Green List (high evidence)

KDM6A (lysine demethylase 6A)
EnsemblGeneIds (GRCh38): ENSG00000147050
EnsemblGeneIds (GRCh37): ENSG00000147050
OMIM: 300128, Gene2Phenotype
KDM6A is in 15 panels

2 reviews

Anna de Burca (Genomics England Curator)

Green List (high evidence)

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

Phenotypes
Kabuki syndrome 2

Publications

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Kabuki syndrome 2, 300867
  • X-linked dominant neonatal hypoglycaemia as part of Kabuki syndrome
OMIM
300128
Clinvar variants
Variants in KDM6A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Jul 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

28 Jan 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: KDM6A were changed from to Kabuki syndrome 2

28 Jan 2019, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: KDM6A were set to

28 Jan 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: KDM6A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females

24 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Anna de Burca (Genomics England Curator)

Gene: kdm6a has been classified as Green List (High Evidence).

11 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: KDM6A was added gene: KDM6A was added to Congenital hyperinsulinism. Sources: NHS GMS Mode of inheritance for gene: KDM6A was set to