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Intellectual disability syndromic and non-syndromic

Gene: KDM6B

Green List (high evidence)

KDM6B (lysine demethylase 6B)
EnsemblGeneIds (GRCh38): ENSG00000132510
EnsemblGeneIds (GRCh37): ENSG00000132510
OMIM: 611577, Gene2Phenotype
KDM6B is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

12 unrelated individuals with de novo variants in this gene, no functional evidence reported but KDM6B involved in histone methylation.
Sources: Expert list
Created: 5 Dec 2019, 10:01 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Intellectual disability
OMIM
611577
Clinvar variants
Variants in KDM6B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kdm6b has been classified as Green List (High Evidence).

5 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kdm6b has been classified as Green List (High Evidence).

5 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KDM6B was added gene: KDM6B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: KDM6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KDM6B were set to 31124279 Phenotypes for gene: KDM6B were set to Intellectual disability Review for gene: KDM6B was set to GREEN