| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebral Palsy v1.203 | ARSA | Zornitza Stark Marked gene: ARSA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.203 | ARSA | Zornitza Stark Gene: arsa has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.203 | ARSA | Zornitza Stark Classified gene: ARSA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.203 | ARSA | Zornitza Stark Gene: arsa has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.194 | ARSA |
Clare van Eyk gene: ARSA was added gene: ARSA was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARSA were set to PMID: 38693247 Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy, MIM#250100 Review for gene: ARSA was set to AMBER Added comment: 3 individuals with biallelic P/LP variants reported in large-scale CP exome sequencing study (PMID: 38693247). No detailed clinical information provided. MLD is associated with progressive neurologic dysfunction, however variable rate of progression. Sources: Literature |
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