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| Cerebral Palsy v1.315 | CCDC22 |
Clare van Eyk changed review comment from: 1 individual reported with hemizygous LOF variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Mutations in RTSC2 cause syndromic ID, with hypotonia and delayed psychomotor development reported in some individuals. Sources: Literature; to: 1 individual reported with hemizygous LOF variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Mutations in CCDC22 cause syndromic ID, with hypotonia and delayed psychomotor development reported in some individuals. Sources: Literature |
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| Cerebral Palsy v1.315 | CCDC22 |
Clare van Eyk gene: CCDC22 was added gene: CCDC22 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: CCDC22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: CCDC22 were set to PMID: 38693247 Phenotypes for gene: CCDC22 were set to Ritscher-Schinzel syndrome 2, MIM#300963 Review for gene: CCDC22 was set to RED Added comment: 1 individual reported with hemizygous LOF variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Mutations in RTSC2 cause syndromic ID, with hypotonia and delayed psychomotor development reported in some individuals. Sources: Literature |
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| Cerebral Palsy v1.228 | TSC2 | Zornitza Stark Marked gene: TSC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.228 | TSC2 | Zornitza Stark Gene: tsc2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.228 | TSC2 | Zornitza Stark Classified gene: TSC2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.228 | TSC2 | Zornitza Stark Gene: tsc2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.194 | TSC2 |
Clare van Eyk gene: TSC2 was added gene: TSC2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TSC2 were set to PMID: 38693247 Phenotypes for gene: TSC2 were set to Tuberous sclerosis-2, MIM#613254 Review for gene: TSC2 was set to RED Added comment: 1 individual with splice variant reported in large-scale exome sequencing study (PMID: 38693247). Sources: Literature |
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