| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebral Palsy v1.280 | DHCR7 | Zornitza Stark Marked gene: DHCR7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.280 | DHCR7 | Zornitza Stark Gene: dhcr7 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.280 | DHCR7 | Zornitza Stark Classified gene: DHCR7 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.280 | DHCR7 | Zornitza Stark Gene: dhcr7 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.275 | DHCR7 |
Clare van Eyk gene: DHCR7 was added gene: DHCR7 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHCR7 were set to PMID: 38693247 Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome, MIM#270400 Review for gene: DHCR7 was set to RED Added comment: 1 individual reported with biallelic P/LP variants (1 missense, 1 frameshift) in a large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Hypotonia in infancy followed by later hypertonia are described, usually presenting with multiple congenital anomalies. Sources: Literature |
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