Mitochondrial disorders
Gene: CLPPEnsemblGeneIds (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
-
- Mitochondrial disorders
- Monogenic hearing loss
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Hypogonadotropic hypogonadism
- Primary ovarian insufficiency
- Hypogonadotropic hypogonadism (GMS)
- Undiagnosed metabolic disorders
- Fetal anomalies
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to CLPP. Panel: Mitochondrial disorders
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for CLPP was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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