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Mitochondrial disease

Gene: CLPP

Green List (high evidence)
CLPP (caseinolytic mitochondrial matrix peptidase proteolytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000125656
EnsemblGeneIds (GRCh37): ENSG00000125656
OMIM: 601119, Gene2Phenotype
CLPP is in 15 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Perrault syndrome (PRLTS) is an autosomal recessive disorder characterized by sensorineural hearing loss (SNHL) and premature ovarian failure (POF) secondary to ovarian dysgenesis. Affected males have SNHL but show normal pubertal development. A spectrum of additional clinical features, including cerebellar ataxia, learning disability, and peripheral neuropathy, have been described in some affected individuals. More than 5 unrelated families reported.
Created: 28 Sep 2020, 10:08 a.m. | Last Modified: 28 Sep 2020, 10:08 a.m.
Panel Version: 0.4612

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Perrault syndrome 3, MIM# 614129

Publications

Created: 28 Sep 2020, 10:08 a.m.
Last Modified: 28 Sep 2020, 10:08 a.m.
Panel version: Imported from Mendeliome panel version 0.4612

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CLPP was added gene: CLPP was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: CLPP was set to Unknown