Cerebral Palsy
Gene: KCNK9EnsemblGeneIds (GRCh38): ENSG00000169427
EnsemblGeneIds (GRCh37): ENSG00000169427
OMIM: 605874, Gene2Phenotype
KCNK9 is in 4 panels
1 review
Clare van Eyk (University of Adelaide)
Single individual with de novo missense variant reported in a monocentric cohort study (PMID: 39213953). Clinically, hypotonic CP, hyperlaxicity, DD, ID.
Sources: LiteratureCreated: 2 Sep 2024, 7:30 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
Birk-Barel syndrome (KCNK9 imprinting syndrome), MIM#612292
Publications
- PMID: 39213953
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
- Sources
-
- Expert Review Red
- Phenotypes
-
- Birk-Barel syndrome (KCNK9 imprinting syndrome), MIM#612292
- OMIM
- 605874
- Clinvar variants
- Variants in KCNK9
- Penetrance
- None
- Publications
-
- PMID: 39213953
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kcnk9 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kcnk9 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: KCNK9 was added gene: KCNK9 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: KCNK9 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Publications for gene: KCNK9 were set to PMID: 39213953 Phenotypes for gene: KCNK9 were set to Birk-Barel syndrome (KCNK9 imprinting syndrome), MIM#612292 Review for gene: KCNK9 was set to RED