ClinGen Dosage Sensitivity Curation Page
PPIP5K1
- Curation Status: Complete
- id: ISCA-21830
- Date last evaluated: 2012-08-26
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about PPIP5K1 at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/9677
- OMIM: https://omim.org/entry/610979
- ClinGen Haploinsufficiency Score: Gene associated with autosomal recessive phenotype
- ClinGen Triplosensitivity Score: 0
- ExAC pLI score: 0.103
Select assembly:
(NC_000015.9)
(NC_000015.10)
- Haploinsufficiency score: Gene associated with autosomal recessive phenotype
- Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
- Haploinsufficiency Phenotype: DEAFNESS, AUTOSOMAL RECESSIVE 16; DFNB16
Haploinsufficiency phenotype comments:
Variation in STRC has been reported in individuals with autosomal recessive nonsyndromic hearing loss (ARNSHL)It is important to note that STRC is located close to the CATSPER gene which has been found to be crucial to sperm viability and therefore large deletions including STRC have been shown to cause hearing loss as well as male infertility (See genereviews Hildebrand 2017 PMID: 20301780). In summary, The evidence to support the association between STRC and ARNSHL has been expert reviewed by the ClinGen Hearing Loss Working Group and classified as DEFINITIVE.
- Triplosensitivity score: 0
- Strength of Evidence (disclaimer): No evidence for dosage pathogenicity