Combined Immunodeficiency
Gene: KDM6AEnsemblGeneIds (GRCh38): ENSG00000147050
EnsemblGeneIds (GRCh37): ENSG00000147050
OMIM: 300128, Gene2Phenotype
KDM6A is in 17 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Around 50% of Kabuki syndrome cases have immunopathological manifestations
Sources: Expert listCreated: 18 Mar 2021, 3:55 a.m.
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 MIM#300867
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Kabuki syndrome 2 MIM#300867
- OMIM
- 300128
- Clinvar variants
- Variants in KDM6A
- Penetrance
- None
- Publications
- 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
Bryony Thompson (Royal Melbourne Hospital)Gene: kdm6a has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: KDM6A was added gene: KDM6A was added to Combined Immunodeficiency. Sources: Expert list Mode of inheritance for gene: KDM6A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: KDM6A were set to 31363182; 32048120 Phenotypes for gene: KDM6A were set to Kabuki syndrome 2 MIM#300867 Review for gene: KDM6A was set to GREEN