Cerebral Palsy
Gene: KCNH1EnsemblGeneIds (GRCh38): ENSG00000143473
EnsemblGeneIds (GRCh37): ENSG00000143473
OMIM: 603305, Gene2Phenotype
KCNH1 is in 5 panels
1 review
Clare van Eyk (University of Adelaide)
4 individuals with mono-allelic LP missense variants and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided.
Sources: LiteratureCreated: 27 May 2024, 6:20 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Temple-Baraitser syndrome, MIM#611816; Zimmermann-Laband syndrome 1, MIM#135500
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Temple-Baraitser syndrome, MIM#611816
- Zimmermann-Laband syndrome 1, MIM#135500
- OMIM
- 603305
- Clinvar variants
- Variants in KCNH1
- Penetrance
- None
- Publications
-
- PMID: 38693247
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kcnh1 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kcnh1 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: KCNH1 was added gene: KCNH1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: KCNH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNH1 were set to PMID: 38693247 Phenotypes for gene: KCNH1 were set to Temple-Baraitser syndrome, MIM#611816; Zimmermann-Laband syndrome 1, MIM#135500 Review for gene: KCNH1 was set to AMBER