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Intellectual disability syndromic and non-syndromic

Gene: PMPCA

Green List (high evidence)

PMPCA (peptidase, mitochondrial processing alpha subunit)
EnsemblGeneIds (GRCh38): ENSG00000165688
EnsemblGeneIds (GRCh37): ENSG00000165688
OMIM: 613036, Gene2Phenotype
PMPCA is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Seven families reported. Three had the same founder variant. ID observed in five of the affected families (includes the three with the same founder variant).
Sources: Expert list
Created: 13 Feb 2020, 6:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200
OMIM
613036
Clinvar variants
Variants in PMPCA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pmpca has been classified as Green List (High Evidence).

13 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pmpca has been classified as Green List (High Evidence).

13 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PMPCA was added gene: PMPCA was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list Mode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMPCA were set to 25808372; 26657514; 27148589; 30617178 Phenotypes for gene: PMPCA were set to Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200 Review for gene: PMPCA was set to GREEN