KLHL7 Chromosome 7
Kelch like family member 7
Upload your DNA to see your personal genotypes for variants in KLHL7.
What This Gene Does
This gene encodes a BTB-Kelch-related protein. The encoded protein may be involved in protein degradation. Mutations in this gene have been associated with retinitis pigmentosa 42. [provided by RefSeq, Feb 2010]
Gene Info
Gene Group
"Kelch like|BTB domain containing"
Locus Type
gene with protein product
Location
7p15.3
Ensembl
ENSG00000122550
Associated Conditions (12)
Retinitis pigmentosa
Retinal dystrophy
PERCHING syndrome
Retinitis pigmentosa 42
Bohring-Opitz-like syndrome
Cold-induced sweating syndrome 1
KLHL7-related disorder
Ulnar deviation of the wrist
Distal arthrogryposis
Neurodevelopmental delay
Inborn genetic diseases
Bohring-Opitz syndrome
Key Variants
RS1248148456
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS144156217
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS148401327
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS150640353
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa
Health Risk
RS1554286093
Conflicting classifications of pathogenicity
PERCHING syndrome, PERCHING syndrome
Health Risk
RS1554286384
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa 42, Retinitis pigmentosa
Health Risk
RS201497466
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS371329755
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS373590982
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS375718274
Conflicting classifications of pathogenicity
Retinitis pigmentosa 42, PERCHING syndrome, Retinitis pigmentosa 42
Health Risk
RS750816527
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS761755398
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa
Health Risk
All Variants (59)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS879255558 | Health Risk | Pathogenic | PERCHING syndrome, Cold-induced sweating syndrome 1, PERCHING syndrome |
| RS943339467 | Health Risk | Pathogenic | PERCHING syndrome, Inborn genetic diseases, PERCHING syndrome |
| RS981039302 | Health Risk | Pathogenic | — |
| RS137853112 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 42, Retinitis pigmentosa 42 |
| RS137853113 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 42, Retinitis pigmentosa, Retinal dystrophy |
| RS1583657698 | Health Risk | Pathogenic/Likely pathogenic | Bohring-Opitz syndrome, PERCHING syndrome, Bohring-Opitz syndrome |
| RS1784156837 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1784160131 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Retinitis pigmentosa, Inborn genetic diseases |
| RS2534925510 | Health Risk | Pathogenic/Likely pathogenic | — |