Cerebral Palsy
Gene: KDM3B
KDM3B (lysine demethylase 3B)
EnsemblGeneIds (GRCh38): ENSG00000120733
EnsemblGeneIds (GRCh37): ENSG00000120733
OMIM: 609373, Gene2Phenotype
KDM3B is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000120733
EnsemblGeneIds (GRCh37): ENSG00000120733
OMIM: 609373, Gene2Phenotype
KDM3B is in 6 panels
1 review
Clare van Eyk (University of Adelaide)
Single individual with de novo likely pathogenic variant described in WGS study of clinically confirmed CP (PMID: 38553553).
Sources: LiteratureCreated: 27 Jun 2024, 3:53 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Diets-Jongmans syndrome, MIM#618846
Publications
- PMID: 38553553
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Diets-Jongmans syndrome, MIM#618846
- OMIM
- 609373
- Clinvar variants
- Variants in KDM3B
- Penetrance
- None
- Publications
-
- PMID: 38553553
- Panels with this gene
History Filter Activity
24 Jul 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kdm3b has been classified as Red List (Low Evidence).
24 Jul 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kdm3b has been classified as Red List (Low Evidence).
27 Jun 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: KDM3B was added gene: KDM3B was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: KDM3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KDM3B were set to PMID: 38553553 Phenotypes for gene: KDM3B were set to Diets-Jongmans syndrome, MIM#618846 Review for gene: KDM3B was set to RED