Mitochondrial disorders
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
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to green due to expert review, also green on the congenital hearing impairment panel, and is a probable DD gene.Created: 26 Feb 2016, 3:44 p.m.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Perrault syndrome 3, 614129
- OMIM
- 601119
- Clinvar variants
- Variants in CLPP
- Penetrance
- Complete
- Panels with this gene
-
- DDG2P
- Mitochondrial disorders
- Fetal anomalies
- Hypogonadotropic hypogonadism (GMS)
- White matter disorders and cerebral calcification - childhood onset
- Intellectual disability
- Ataxia and cerebellar anomalies - childhood onset
- Possible mitochondrial disorder, nuclear genes
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Monogenic hearing loss
- Hypogonadotropic hypogonadism
- Primary ovarian insufficiency
- Undiagnosed metabolic disorders
History Filter Activity
28 Aug 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to CLPP. Panel: Mitochondrial disorders
26 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
26 Feb 2016, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for CLPP was changed to BIALLELIC, autosomal or pseudoautosomal
26 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
30 Jun 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CLPP was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen