Cerebral Palsy
Gene: CLTCEnsemblGeneIds (GRCh38): ENSG00000141367
EnsemblGeneIds (GRCh37): ENSG00000141367
OMIM: 118955, Gene2Phenotype
CLTC is in 6 panels
1 review
Luisa Weiss (University of Adelaide)
One large CP cohort study with one patient reported.
One more publication with 13 cases of syndromic ID due to heterozygous CLTC mutations. Cerebral palsy affecting gait recurrently seen in these individuals.
Sources: LiteratureCreated: 23 May 2023, 1:46 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual developmental disorder MIM#617854
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Intellectual developmental disorder MIM#617854
- OMIM
- 118955
- Clinvar variants
- Variants in CLTC
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cltc has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cltc has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: CLTC was added gene: CLTC was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: CLTC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CLTC were set to 33528536; 31776469 Phenotypes for gene: CLTC were set to Intellectual developmental disorder MIM#617854 Review for gene: CLTC was set to GREEN