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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