Hyperinsulinism
Gene: KDM6AEnsemblGeneIds (GRCh38): ENSG00000147050
EnsemblGeneIds (GRCh37): ENSG00000147050
OMIM: 300128, Gene2Phenotype
KDM6A is in 17 panels
2 reviews
Elena Savva (Victorian Clinical Genetics Services)
LOF/haploinsufficiency - multiple PTC variants reported.
- No current studies on missense variants reported in the C-terminal region of the protein.
Female patients have been reported with random and skewed X-inactivation cases. Maternal relatives who are carriers have been reported to have milder phenotypes.Created: 18 Jun 2020, 5:50 a.m. | Last Modified: 18 Jun 2020, 5:50 a.m.
Panel Version: 0.3111
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Kabuki syndrome 2, 300867
Publications
Variants in this GENE are reported as part of current diagnostic practice
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Hyperinsulinism is a presenting feature of Kabuki syndrome in the neonatal period.
Sources: Expert listCreated: 14 Feb 2020, 3:32 a.m.
Mode of inheritance
Other
Phenotypes
Kabuki syndrome 2, MIM# 300867
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Kabuki syndrome 2, MIM# 300867
- OMIM
- 300128
- Clinvar variants
- Variants in KDM6A
- Penetrance
- None
- Panels with this gene
-
- Combined Immunodeficiency
- Hyperinsulinism
- Clefting disorders
- Kabuki syndrome
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Hypertrichosis syndromes
- Genetic Epilepsy
- Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
- Hand and foot malformations
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Mendeliome
- Congenital diaphragmatic hernia
- Growth failure
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kdm6a has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kdm6a has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: KDM6A was added gene: KDM6A was added to Hyperinsulinism. Sources: Expert list Mode of inheritance for gene: KDM6A was set to Other Phenotypes for gene: KDM6A were set to Kabuki syndrome 2, MIM# 300867 Review for gene: KDM6A was set to GREEN