Monogenic hearing loss
Gene: CLPPEnsemblGeneIds (GRCh38): ENSG00000125656
EnsemblGeneIds (GRCh37): ENSG00000125656
OMIM: 601119, Gene2Phenotype
CLPP is in 14 panels
5 reviews
Ellen McDonagh (Genomics England Curator)
New review confirms gene status and mode of inheritance; no changes required.Created: 11 Oct 2018, 1:41 p.m.
Lampros Mavrogiannis (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Maria Bitner-Glindzicz (UCL)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Jun Shen (Harvard Medical School)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#614129:Perrault syndrome 3[Short stature (in some patients); Microcephaly (in some patients); Hearing loss, congenital sensorineural, severe to profound; Ovarian failure, prematureSmall ovariesStreak ovariesRudimentary uterus; Seizures (in some patients)Learning and developmental delay (in some patients)Ataxia, cerebellar (in some patients); Increased gonadotropin levels (in female patients); Caused by mutation in the homolog of the E. coli ATP-dependent protease ClpAP, proteolytic subunit gene (CLPP,)]
Publications
Damian Smedley (Genomics England Curator)
Comment on list classification: Good evidence from OMIM and expert reviewCreated: 31 Jan 2016, 8:03 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- #614129:Perrault syndrome 3
- OMIM
- 601119
- Clinvar variants
- Variants in CLPP
- Penetrance
- Complete
- Publications
- 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
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for CLPP were set to #614129:Perrault syndrome 3
Set publications
Ellen McDonagh (Genomics England Curator)Publications for CLPP were set to PMID:10347188; 11923310; 16115876; 17690910; 21660509; 22037954; 23541340; 23851121; 8543061
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Damian Smedley (Genomics England Curator)Mode of inheritance for CLPP was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Damian Smedley (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 Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)CLPP was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)CLPP was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert