Ataxia and cerebellar anomalies - narrow panelGene: PMPCA
Comment on list classification: Updated rating from Red to Green, to match Green rating on Hereditary ataxia v1.148 panel.
Created: 20 Dec 2018, 12:57 p.m.
Rebecca Foulger: Comment on list classification
Gene: pmpca has been classified as Green List (High Evidence).
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)
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.