Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: CLPP
CLPP (caseinolytic mitochondrial matrix peptidase proteolytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000125656
EnsemblGeneIds (GRCh37): ENSG00000125656
OMIM: 601119, Gene2Phenotype
CLPP is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000125656
EnsemblGeneIds (GRCh37): ENSG00000125656
OMIM: 601119, Gene2Phenotype
CLPP is in 15 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Victorian Clinical Genetics Services
- Phenotypes
-
- Perrault syndrome 3 614129
- OMIM
- 601119
- Clinvar variants
- Variants in CLPP
- Penetrance
- None
- Publications
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- BabyScreen+ newborn screening
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Differences of Sex Development
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Deafness_Isolated
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Hereditary Spastic Paraplegia - paediatric
- Ataxia - paediatric
History Filter Activity
11 Dec 2020, Gel status: 3
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: clpp has been classified as Green List (High Evidence).
11 Dec 2020, Gel status: 3
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: CLPP were set to
17 Jun 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: CLPP was added gene: CLPP was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLPP were set to Perrault syndrome 3 614129