Cerebral Palsy
Gene: TRIP12EnsemblGeneIds (GRCh38): ENSG00000153827
EnsemblGeneIds (GRCh37): ENSG00000153827
OMIM: 604506, Gene2Phenotype
TRIP12 is in 7 panels
1 review
Clare van Eyk (University of Adelaide)
Single individual with de novo splice variant described in WGS study of clinically confirmed CP (PMID: 38553553). Motor delays are reported to be common in TRIP12 syndrome.
Sources: LiteratureCreated: 28 Jun 2024, 3:45 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual developmental disorder, autosomal dominant 49, MIM#617752
Publications
- PMID: 36747006
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Intellectual developmental disorder, autosomal dominant 49, MIM#617752
- OMIM
- 604506
- Clinvar variants
- Variants in TRIP12
- Penetrance
- None
- Publications
-
- PMID: 36747006
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: trip12 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: trip12 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: TRIP12 was added gene: TRIP12 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: TRIP12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRIP12 were set to PMID: 36747006 Phenotypes for gene: TRIP12 were set to Intellectual developmental disorder, autosomal dominant 49, MIM#617752 Review for gene: TRIP12 was set to RED