Congenital hyperinsulinism
Gene: KDM6AEnsemblGeneIds (GRCh38): ENSG00000147050
EnsemblGeneIds (GRCh37): ENSG00000147050
OMIM: 300128, Gene2Phenotype
KDM6A is in 16 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
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Kabuki syndrome 2
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: 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
-
- 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
-
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Deafness and congenital structural abnormalities
- DDG2P
- Intellectual disability
- Monogenic short stature
- COVID-19 research
- Osteogenesis imperfecta
- Clefting
- Congenital hyperinsulinism
- IUGR and IGF abnormalities
- Structural eye disease
- Fetal anomalies
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Kabuki syndrome
- CAKUT
History Filter Activity
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
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: KDM6A were changed from to Kabuki syndrome 2
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: KDM6A were set to
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
Entity classified by Genomics England curator
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)Gene: kdm6a has been classified as Green List (High Evidence).
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