| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebral Palsy v1.225 | CLCN7 | Zornitza Stark Marked gene: CLCN7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.225 | CLCN7 | Zornitza Stark Gene: clcn7 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.225 | CLCN7 | Zornitza Stark Classified gene: CLCN7 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.225 | CLCN7 | Zornitza Stark Gene: clcn7 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.193 | CLCN7 |
Clare van Eyk gene: CLCN7 was added gene: CLCN7 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: CLCN7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CLCN7 were set to PMID: 38693247 Phenotypes for gene: CLCN7 were set to Hypopigmentation, organomegaly, and delayed myelination and development, MIM#175780; Osteopetrosis, autosomal recessive 4; OPTB4, MIM#602727 Review for gene: CLCN7 was set to RED Added comment: 1 individual with homozygous splice variant reported in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Bi-allelic variants have been reported to cause osteopetrosis. Sources: Literature |
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