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| Cerebral Palsy v1.326 | THOC2 | Zornitza Stark Marked gene: THOC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.326 | THOC2 | Zornitza Stark Added comment: Comment when marking as ready: Amber rating due to lack of phenotypic data in the large cohort study. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.326 | THOC2 | Zornitza Stark Gene: thoc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.326 | THOC2 | Zornitza Stark Classified gene: THOC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.326 | THOC2 | Zornitza Stark Gene: thoc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.315 | THOC2 |
Clare van Eyk 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 Added comment: 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: Literature |
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