Cerebral Palsy
Gene: TBCKEnsemblGeneIds (GRCh38): ENSG00000145348
EnsemblGeneIds (GRCh37): ENSG00000145348
OMIM: 616899, Gene2Phenotype
TBCK is in 9 panels
1 review
Clare van Eyk (University of Adelaide)
Single individual with biallelic variants in TBCK reported in a monocentric cohort study (PMID: 39213953). Clinically, hypotonic CP, DD, muscle weakness, hyperlaxicity, epilepsy.
Sources: LiteratureCreated: 3 Sep 2024, 4:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypotonia, infantiale with psychomotor retardation and characteristic facies 3, MIM#616900
Publications
- PMID: 39213953
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Hypotonia, infantiale with psychomotor retardation and characteristic facies 3, MIM#616900
- OMIM
- 616899
- Clinvar variants
- Variants in TBCK
- 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: tbck has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tbck 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: TBCK was added gene: TBCK was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: TBCK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBCK were set to PMID: 39213953 Phenotypes for gene: TBCK were set to Hypotonia, infantiale with psychomotor retardation and characteristic facies 3, MIM#616900 Review for gene: TBCK was set to RED