Genomic imprinting
Gene: KCNK9EnsemblGeneIds (GRCh38): ENSG00000169427
EnsemblGeneIds (GRCh37): ENSG00000169427
OMIM: 605874, Gene2Phenotype
KCNK9 is in 3 panels
1 review
Ellen McDonagh (Genomics England Curator)
http://omim.org/entry/612292?search=kcnk9&highlight=kcnk9. This is (a) gene in imprinted regions, in which point mutations / indels are associated with disease (e.g. CDKN1C)Created: 4 May 2017, 2:37 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
Birk-Barel syndrome; Phenotype resulting from under expression: mental retardation, hypotonia, dysmprophism; Affected tissue: brain
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
- Sources
-
- Literature
- Expert Review Green
- Imprinting GeCIP Subdomain
- Phenotypes
-
- Birk-Barel syndrome
- Phenotype resulting from under expression: mental retardation, hypotonia, dysmprophism
- Affected tissue: brain
- OMIM
- 605874
- Clinvar variants
- Variants in KCNK9
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Added New Source, Set publications
Sarah Leigh (Genomics England Curator)Source Literature was added to KCNK9. Publications for gene KCNK9 were updated from PMID: 24667089; 18678320 to 30794780; PMID: 24667089; http://igc.otago.ac.nz/home.html; 18678320
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)KCNK9 was added to Imprinted Genespanel. Sources: Imprinting GeCIP Subdomain
Created
Ellen McDonagh (Genomics England Curator)KCNK9 was created by ellenmcdonagh