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  2. Macrocephaly_Megalencephaly
  3. KDM6B
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Macrocephaly_Megalencephaly

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

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Rots (2023): 17/65 probands were macrocephalic
Sources: Literature
Created: 3 Aug 2023, 12:42 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities MIM#618505

Publications

Created: 3 Aug 2023, 12:42 a.m.

Panel version: 0.123

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities MIM#618505
OMIM
611577
Clinvar variants
Variants in KDM6B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

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

3 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

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

3 Aug 2023, Gel status: 1

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: kdm6b has been classified as Red List (Low Evidence).

3 Aug 2023, Gel status: 1

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

Elena Savva (Victorian Clinical Genetics Services)

gene: KDM6B was added gene: KDM6B was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: KDM6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KDM6B were set to PMID: 37196654 Phenotypes for gene: KDM6B were set to Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities MIM#618505 Review for gene: KDM6B was set to GREEN