Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Cerebral Palsy v1.367 | CHD3 | Clare van Eyk edited their review of gene: CHD3: Added comment: Additional individual with de novo missense variant reported in a monocentric cohort study (PMID: 39213953). Clinically, ataxic CP, DD, ID, bilateral widened frontal subarachnoid space.; Changed publications: PMID: 38168508, PMID: 39213953 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.318 | CHD3 | Zornitza Stark Marked gene: CHD3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.318 | CHD3 | Zornitza Stark Gene: chd3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.318 | CHD3 | Zornitza Stark Classified gene: CHD3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.318 | CHD3 | Zornitza Stark Gene: chd3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.315 | CHD3 |
Clare van Eyk gene: CHD3 was added gene: CHD3 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: CHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHD3 were set to PMID: 38168508 Phenotypes for gene: CHD3 were set to Snijders Blok-Campeau syndrome, MIM#618205 Review for gene: CHD3 was set to RED Added comment: Single case with de novo LP variant in CHD3, diagnosed with spastic hemiplegic cerebral palsy with unclear cause (PMID: 38168508). Causal link not established. Sources: Literature |