Cerebral Palsy
Gene: THOC2EnsemblGeneIds (GRCh38): ENSG00000125676
EnsemblGeneIds (GRCh37): ENSG00000125676
OMIM: 300395, Gene2Phenotype
THOC2 is in 9 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Comment when marking as ready: Amber rating due to lack of phenotypic data in the large cohort study.Created: 26 Jun 2024, 8:49 a.m. | Last Modified: 26 Jun 2024, 8:49 a.m.
Panel Version: 1.326
Clare van Eyk (University of Adelaide)
3 hemizygous males with pathogenic/likely pathogenic variants reported in large-scale CP exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Additional female with cryptogenic spastic quadriplegic CP also reported with heterozygous de novo pathogenic THOC2 variant (PMID: 38168508). Some females reported in literature previously. Dyskinesia, dystonia and spasticity are reported as clinical features in several additional cases in a series (PMID: 32116545).
Sources: LiteratureCreated: 26 Jun 2024, 2:59 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Intellectual developmental disorder, X-linked 12, MIM#300957
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Intellectual developmental disorder, X-linked 12, MIM#300957
- OMIM
- 300395
- Clinvar variants
- Variants in THOC2
- 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: thoc2 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: thoc2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: THOC2 was added gene: THOC2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: THOC2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: THOC2 were set to PMID: 38168508; PMID: 38693247; PMID: 32116545 Phenotypes for gene: THOC2 were set to Intellectual developmental disorder, X-linked 12, MIM#300957 Review for gene: THOC2 was set to GREEN