Hydrops fetalis
Gene: KDM6A
KDM6A (lysine demethylase 6A)
EnsemblGeneIds (GRCh38): ENSG00000147050
EnsemblGeneIds (GRCh37): ENSG00000147050
OMIM: 300128, Gene2Phenotype
KDM6A is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000147050
EnsemblGeneIds (GRCh37): ENSG00000147050
OMIM: 300128, Gene2Phenotype
KDM6A is in 17 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Reports of hydrops in KMT2D-related Kabuki syndrome, however no specific reports of hydrops in individuals with KDM6A-related Kabuki, XLD.
Sources: Expert listCreated: 13 Aug 2020, 8:53 a.m.
Mode of inheritance
Other
Phenotypes
Kabuki syndrome 2, MIM# 300867
Publications
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Red
- 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
13 Aug 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kdm6a has been classified as Red List (Low Evidence).
13 Aug 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: KDM6A was added gene: KDM6A was added to Hydrops fetalis. Sources: Expert list Mode of inheritance for gene: KDM6A was set to Other Publications for gene: KDM6A were set to 27568880 Phenotypes for gene: KDM6A were set to Kabuki syndrome 2, MIM# 300867 Review for gene: KDM6A was set to RED