Ataxia and cerebellar anomalies - narrow panel
Gene: PMPCAEnsemblGeneIds (GRCh38): ENSG00000165688
EnsemblGeneIds (GRCh37): ENSG00000165688
OMIM: 613036, Gene2Phenotype
PMPCA is in 11 panels
1 review
Rebecca Foulger (Genomics England curator)
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Spinocerebellar ataxia, autosomal recessive 2 213200 AR
- Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families.
- OMIM
- 613036
- Clinvar variants
- Variants in PMPCA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- Cerebellar hypoplasia
- Hereditary ataxia
History Filter Activity
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Comment on list classification
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: pmpca has been classified as Green List (High Evidence).
Added New Source, Set Phenotypes, Set publications, Status Update
Ellen McDonagh (Genomics England Curator)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)
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)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.