Primary ovarian insufficiency

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 10 panels

2 reviews

Louise IZATT (GSTT Clinical Genetics Service)

POI is a feature of Perrault syndrome
Created: 9 Jun 2017, 1:54 p.m.

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

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 syndrome
Created: 19 May 2017, 2:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Perrault syndrome 3 614129

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