| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebral Palsy v1.75 | ATP8A2 | Zornitza Stark Marked gene: ATP8A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.75 | ATP8A2 | Zornitza Stark Gene: atp8a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.75 | ATP8A2 | Zornitza Stark Classified gene: ATP8A2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.75 | ATP8A2 | Zornitza Stark Gene: atp8a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.36 | ATP8A2 |
Luisa Weiss gene: ATP8A2 was added gene: ATP8A2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ATP8A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP8A2 were set to 35321980; 30542205; 34077496 Phenotypes for gene: ATP8A2 were set to Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome, MIM#615268 Review for gene: ATP8A2 was set to GREEN Added comment: 4 individuals from 3 families with biallelic mutations in ATP8A2 and CP. 3/4 patients presented with intellectual disability. PMID 35321980: Two sibling reported with a non-progressive dyskinetic cerebral palsy resembling cerebellar ataxia (athetotic movements, ptosis, ophthalmoplegia, hypotonia, delayed development) PMID 30542205: One patient with atypical CP (atypical due to intellectual disability)because intell dis and typical neurologic pattern (hypertonia, ataxia or transient episodic exacerbations of neurologic symptoms) PMID 34077496: One patient with CP and microcephaly likely due to simultaneously present biallelic CIT mutations Sources: Literature |
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