Monogenic hearing loss
Gene: CLPPNew review confirms gene status and mode of inheritance; no changes required.Created: 11 Oct 2018, 1:41 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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
Comment on list classification: Good evidence from OMIM and expert reviewCreated: 31 Jan 2016, 8:03 a.m.
Phenotypes for CLPP were set to #614129:Perrault syndrome 3
Publications for CLPP were set to PMID:10347188; 11923310; 16115876; 17690910; 21660509; 22037954; 23541340; 23851121; 8543061
This gene has been classified as Green List (High Evidence).
Mode of inheritance for CLPP was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
CLPP was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
CLPP was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
CLPP was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert