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| Cerebral Palsy v1.367 | CLCN4 | Clare van Eyk edited their review of gene: CLCN4: Added comment: Additional hemizygous male (de novo missense mutation) in monocentric cohort study (PMID: 39213953). Clinically spastic quadriplegia, epilepsy, osteoporosis, cerebral atrophy, corpus callosum hypoplasia.; Changed publications: PMID: 38693247, PMID: 37789889, PMID: 39213953 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.315 | CLCN4 | Clare van Eyk reviewed gene: CLCN4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247, PMID: 37789889; Phenotypes: Raynaud-Claes syndrome MIM#300114; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.63 | CLCN4 | Zornitza Stark Marked gene: CLCN4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.63 | CLCN4 | Zornitza Stark Gene: clcn4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.63 | CLCN4 | Zornitza Stark Classified gene: CLCN4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.63 | CLCN4 | Zornitza Stark Gene: clcn4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.36 | CLCN4 |
Luisa Weiss gene: CLCN4 was added gene: CLCN4 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: CLCN4 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: CLCN4 were set to 34788679 Phenotypes for gene: CLCN4 were set to Raynaud-Claes syndrome MIM#300114 Review for gene: CLCN4 was set to AMBER Added comment: One female patient presented in a large cohort study with phenotypic overlap to Raynaud-Claes syndrome (ID, epilepsy and language deficits). The mutation is a heterozygous missense mutation previously reported to cause Raynaud-Claes syndrome. Sources: Literature |
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