| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebral Palsy v1.287 | HSPD1 | Zornitza Stark Marked gene: HSPD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.287 | HSPD1 | Zornitza Stark Gene: hspd1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.287 | HSPD1 | Zornitza Stark Classified gene: HSPD1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.287 | HSPD1 | Zornitza Stark Gene: hspd1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.283 | HSPD1 |
Clare van Eyk gene: HSPD1 was added gene: HSPD1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: HSPD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSPD1 were set to PMID: 38693247 Phenotypes for gene: HSPD1 were set to Leukodystrophy, hypomyelinating, 4, MIM#612233 Review for gene: HSPD1 was set to RED Added comment: 1 individual reported with homozygous likely pathogenic missense variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. HLD4 has been reported to show rapidly progressive prominent spasticity and developmental regression. Sources: Literature |
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