Primary ovarian insufficiency
Gene: CLPP
CLPP (caseinolytic mitochondrial matrix peptidase proteolytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000125656
EnsemblGeneIds (GRCh37): ENSG00000125656
OMIM: 601119, Gene2Phenotype
CLPP is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000125656
EnsemblGeneIds (GRCh37): ENSG00000125656
OMIM: 601119, Gene2Phenotype
CLPP is in 14 panels
2 reviews
Louise IZATT (GSTT Clinical Genetics Service)
POI is a feature of Perrault syndromeCreated: 9 Jun 2017, 1:54 p.m.
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Marked as green as biallelic mutations cause Perrault syndrome of which POI is a feature.Created: 22 May 2017, 9:14 a.m.
POI can be a feature of Perrault syndromeCreated: 19 May 2017, 2:12 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Perrault syndrome 3 614129
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Perrault syndrome 3 614129
- OMIM
- 601119
- Clinvar variants
- Variants in CLPP
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- White matter disorders and cerebral calcification - narrow panel
- Ataxia and cerebellar anomalies - narrow panel
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- Hypogonadotropic hypogonadism
- DDG2P
- Primary ovarian insufficiency
- Hypogonadotropic hypogonadism (GMS)
- Monogenic hearing loss
- Intellectual disability
- Fetal anomalies
- Undiagnosed metabolic disorders
History Filter Activity
31 May 2017, Gel status: 4
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoting to Version 1 on 31-05-2017, after internal curation and review.
22 May 2017, Gel status: 4
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
22 May 2017, Gel status: 4
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
19 May 2017, Gel status: 0
Added New Source
Arianna Tucci (Genomics England Curator)CLPP was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature
19 May 2017, Gel status: 0
Created
Arianna Tucci (Genomics England Curator)CLPP was created by arianna