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| Ataxia and cerebellar anomalies - narrow panel v0.7 | PMPCA | Rebecca Foulger Classified gene: PMPCA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v0.7 | PMPCA | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green, to match Green rating on Hereditary ataxia v1.148 panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v0.7 | PMPCA | Rebecca Foulger Gene: pmpca has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v0.5 | PMPCA |
Ellen McDonagh Source Expert Review Red was added to PMPCA. Added phenotypes Spinocerebellar ataxia, autosomal recessive 2 213200 AR for gene: PMPCA Publications for gene PMPCA were changed from PMID:25808372 to PubMed: 10528257, 25808372 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Ataxia and cerebellar anomalies - narrow panel v0.5 | PMPCA |
Ellen McDonagh gene: PMPCA was added gene: PMPCA was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMPCA were set to PMID:25808372 Phenotypes for gene: PMPCA were set to Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families. |
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