CRB1 Chromosome 1
Crumbs cell polarity complex component 1
Upload your DNA to see your personal genotypes for variants in CRB1.
What This Gene Does
This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaffold that controls proper development of polarity in the eye. Mutations in this gene are associated with a severe form of retinitis pigmentosa, RP12, and with Leber congenital amaurosis. Alternate splicing results in multiple transcript variants, some protein coding and some non-protein coding.[provided by RefSeq, Apr 2012]
Gene Info
Gene Group
Crumbs complex components
Locus Type
gene with protein product
Location
1q31.3
Ensembl
ENSG00000134376
Associated Conditions (27)
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Cone-rod dystrophy
Optic atrophy
Leber congenital amaurosis
Inborn genetic diseases
Retinitis pigmentosa
Retinal dystrophy
CRB1-related disorder
Hereditary macular dystrophy
Colon adenocarcinoma
Leber congenital amaurosis 1
CRB1-related maculopathy
Intellectual disability
Gastric cancer
Macular dystrophy
Autosomal recessive bestrophinopathy
Cone dystrophy
Autosomal recessive retinitis pigmentosa
+7 more conditions
Key Variants
RS1009552469
Conflicting classifications of pathogenicity
Leber congenital amaurosis 8, Retinitis pigmentosa 12, Pigmented paravenous retinochoroidal atrophy
Health Risk
RS1057519162
Conflicting classifications of pathogenicity
Cone-rod dystrophy, Optic atrophy, Cone-rod dystrophy
Health Risk
RS1064797126
Conflicting classifications of pathogenicity
Retinitis pigmentosa 12, Leber congenital amaurosis 8, Retinitis pigmentosa 12
Health Risk
RS1064797128
Conflicting classifications of pathogenicity
Leber congenital amaurosis, Leber congenital amaurosis
Health Risk
RS111761880
Conflicting classifications of pathogenicity
Retinitis pigmentosa 12, Leber congenital amaurosis 8, Leber congenital amaurosis
Health Risk
RS114052315
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Pigmented paravenous retinochoroidal atrophy, Leber congenital amaurosis 8
Health Risk
RS114846212
Conflicting classifications of pathogenicity
Leber congenital amaurosis 8, Retinitis pigmentosa, Pigmented paravenous retinochoroidal atrophy
Health Risk
RS116246250
Conflicting classifications of pathogenicity
Leber congenital amaurosis 8, Retinitis pigmentosa, Pigmented paravenous retinochoroidal atrophy
Health Risk
RS1204363918
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Leber congenital amaurosis 8, Pigmented paravenous retinochoroidal atrophy
Health Risk
RS1238001290
Conflicting classifications of pathogenicity
Leber congenital amaurosis 8, Retinitis pigmentosa 12, Pigmented paravenous retinochoroidal atrophy
Health Risk
RS1266363944
Conflicting classifications of pathogenicity
Leber congenital amaurosis, Retinitis pigmentosa 12, Leber congenital amaurosis 8
Health Risk
RS1271816211
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Leber congenital amaurosis 8, Retinitis pigmentosa 12
Health Risk
All Variants (556)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1665063400 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 12, Leber congenital amaurosis 8, Retinitis pigmentosa 12 |
| RS1665066272 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 8, Retinitis pigmentosa 12, Leber congenital amaurosis 8 |
| RS1665282478 | Health Risk | Pathogenic/Likely pathogenic | Pigmented paravenous retinochoroidal atrophy, Retinitis pigmentosa 12, Leber congenital amaurosis 8 |
| RS181410446 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 12, Leber congenital amaurosis 8, Retinitis pigmentosa 12 |
| RS2125193922 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 12, Leber congenital amaurosis 8, Retinitis pigmentosa 12 |
| RS2125304900 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 12, Leber congenital amaurosis 8, Pigmented paravenous retinochoroidal atrophy |
| RS2125471098 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 12, Leber congenital amaurosis 8, Retinitis pigmentosa 12 |
| RS2125483925 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 12, Leber congenital amaurosis 8, Retinitis pigmentosa 12 |
| RS2125488868 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 8, Retinitis pigmentosa 12, Leber congenital amaurosis 8 |
| RS2125500431 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 12, Leber congenital amaurosis 8, Pigmented paravenous retinochoroidal atrophy |
| RS2125500491 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 12, Leber congenital amaurosis 8, Retinal dystrophy |
| RS2125506459 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 12, Leber congenital amaurosis 8, Pigmented paravenous retinochoroidal atrophy |
| RS2125513602 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 12, Leber congenital amaurosis 8, Pigmented paravenous retinochoroidal atrophy |
| RS2527715135 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 8, Retinitis pigmentosa 12, Leber congenital amaurosis 8 |
| RS2528104500 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 8, Retinitis pigmentosa 12, Leber congenital amaurosis 8 |
| RS2528108972 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 12, Leber congenital amaurosis 8, CRB1-related disorder |
| RS267598278 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Leber congenital amaurosis 8, Retinitis pigmentosa 12 |
| RS28939720 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 12, Leber congenital amaurosis 8, Retinitis pigmentosa |
| RS369184026 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 8, Retinitis pigmentosa 12, Retinal dystrophy |
| RS369775002 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis, Retinitis pigmentosa 12, Leber congenital amaurosis 8 |
| RS62635654 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 12, Macular dystrophy, Retinitis pigmentosa |
| RS62635659 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 8, Retinitis pigmentosa 12, Pigmented paravenous retinochoroidal atrophy |
| RS62636264 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 12, Leber congenital amaurosis 8, Leber congenital amaurosis |
| RS62636265 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 8, Retinitis pigmentosa 12, Leber congenital amaurosis 8 |
| RS62636266 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 12, Leber congenital amaurosis 8, Leber congenital amaurosis |
| RS62636267 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 8, Retinitis pigmentosa 12, Leber congenital amaurosis 8 |
| RS62636271 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 12, Leber congenital amaurosis 8, Leber congenital amaurosis |
| RS62636274 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 8, Leber congenital amaurosis 8, Retinal dystrophy |
| RS62645750 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 12, Leber congenital amaurosis 8, Retinitis pigmentosa 12 |
| RS62645754 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis, Leber congenital amaurosis 8, Retinitis pigmentosa 12 |
| RS746597173 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 8, Retinitis pigmentosa 12, Leber congenital amaurosis |
| RS751935649 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 8, Retinitis pigmentosa 12, Pigmented paravenous retinochoroidal atrophy |
| RS754575460 | Health Risk | Pathogenic/Likely pathogenic | Cone-rod dystrophy, Retinitis pigmentosa 12, Leber congenital amaurosis 8 |
| RS755489411 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 8, Retinitis pigmentosa 12, Leber congenital amaurosis 8 |
| RS756544059 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 8, Retinitis pigmentosa 12, Leber congenital amaurosis 8 |
| RS757279881 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 8, Retinitis pigmentosa 12, Leber congenital amaurosis 8 |
| RS760287363 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinitis pigmentosa 12, Leber congenital amaurosis 8 |
| RS760419335 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 8, Retinitis pigmentosa 12, Retinal dystrophy |
| RS760544654 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Retinal dystrophy, Leber congenital amaurosis 8 |
| RS763111500 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 12, Leber congenital amaurosis 8, Leber congenital amaurosis |
| RS763324776 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 12, Leber congenital amaurosis 8, Pigmented paravenous retinochoroidal atrophy |
| RS764256655 | Health Risk | Pathogenic/Likely pathogenic | Macular dystrophy, Retinitis pigmentosa 12, Leber congenital amaurosis 8 |
| RS765676754 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 8, Retinitis pigmentosa 12, Retinal dystrophy |
| RS767648174 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinitis pigmentosa 12, Leber congenital amaurosis 8 |
| RS768107603 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 8, Retinitis pigmentosa 12, Pigmented paravenous retinochoroidal atrophy |
| RS768713412 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 12, Leber congenital amaurosis 8, Retinal dystrophy |
| RS769909288 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 8, Retinitis pigmentosa 12, Pigmented paravenous retinochoroidal atrophy |
| RS773914330 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Leber congenital amaurosis 8, Retinitis pigmentosa 12 |
| RS778232235 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 12, Leber congenital amaurosis 8, Retinitis pigmentosa 12 |
| RS778419716 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 12, Leber congenital amaurosis 8, Retinitis pigmentosa 12 |