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| Ataxia - paediatric v0.228 | ATP8A2 |
Zornitza Stark changed review comment from: Multiple individuals from unrelated families reported with bi-allelic variants in this gene and neurological phenotypes including intellectual disability and cerebellar ataxia. Sources: Expert list; to: 10 individuals from six unrelated families reported with bi-allelic variants in this gene and neurological phenotypes including intellectual disability and cerebellar ataxia. Sources: Expert list |
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| Ataxia - paediatric v0.228 | ATP8A2 |
Zornitza Stark changed review comment from: Multiple individuals from unrelated families reported with bi-allelic variants in this gene and neurological phenotypes including intellectual disability. Sources: Expert list; to: Multiple individuals from unrelated families reported with bi-allelic variants in this gene and neurological phenotypes including intellectual disability and cerebellar ataxia. Sources: Expert list |
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| Ataxia - paediatric v0.205 | ATP8A2 | Zornitza Stark Marked gene: ATP8A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.205 | ATP8A2 | Zornitza Stark Gene: atp8a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.205 | ATP8A2 | Zornitza Stark Phenotypes for gene: ATP8A2 were changed from Cerebellar ataxia, mental retardation and dysequilibirum syndrome 4 to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, MIM#615268 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.204 | ATP8A2 | Zornitza Stark Publications for gene: ATP8A2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.0 | ATP8A2 |
Bryony Thompson gene: ATP8A2 was added gene: ATP8A2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ATP8A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP8A2 were set to Cerebellar ataxia, mental retardation and dysequilibirum syndrome 4 |
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