ClinGen Dosage Sensitivity Curation Page
NPHP1
- Curation Status: Complete
- id: ISCA-12639
- Date last evaluated: 2012-10-10
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about NPHP1 at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/4867
- OMIM: https://omim.org/entry/607100
- Gene Reviews: https://www.ncbi.nlm.nih.gov/books/NBK1116/?term=NPHP1%5Bgenesymbol%5D
- ClinGen Haploinsufficiency Score: Gene associated with autosomal recessive phenotype
- ClinGen Triplosensitivity Score: 0
- See related regions:
- 2q13 recurrent region (includes NPHP1)
Select assembly:
(NC_000002.11)
(NC_000002.12)
- Haploinsufficiency score: Gene associated with autosomal recessive phenotype
- Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
Haploinsufficiency phenotype comments:
Mutations in this gene are associated with the autosomal recessive conditions Joubert syndrome, Senior-Loken syndrome, and juvenile nephronopthisis. Homozygous deletions of a larger region including this gene and part of the MALL gene represent a common mechanism amongst affected individuals. See the linked region issue for more details regarding heterozygous carriers of deletions and duplications of this region.
- Triplosensitivity score: 0
- Strength of Evidence (disclaimer): No evidence for dosage pathogenicity
Triplosensitivity phenotype comment:
As above, duplications of the genomic region involving this gene and part of the MALL gene are discussed in the linked region issue. At this time, there have been no reports of whole gene duplications of NPHP1 ALONE.