Pigmented paravenous retinochoroidal atrophy: genes and variants
Pigmented paravenous retinochoroidal atrophy is linked to 1 analyzed protein (CRB1). 11 DNA variants are known to cause it; 56 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Pigmented paravenous retinochoroidal atrophy
CRB1: Protein crumbs homolog 1
It helps maintain apical polarity and structural organization of photoreceptors and Muller glia in the retina. Biallelic pathogenic variants cause inherited retinal dystrophies including Leber congenital amaurosis and retinitis pigmentosa.
11 disease-causing and 56 uncertain variants in CRB1 are linked to Pigmented paravenous retinochoroidal atrophy.
Known disease-causing variants in Pigmented paravenous retinochoroidal atrophy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CRB1 D1005V | 1005 | Laminin G-like 3 | Disease-causing (★★★★) |
| CRB1 G850V | 850 | Laminin G-like 2 | Disease-causing (★★) |
| CRB1 C1148R | 1148 | EGF-like 15 | Disease-causing (★★) |
| CRB1 C1321G | 1321 | EGF-like 19 | Disease-causing (★★) |
| CRB1 C1229S | 1229 | EGF-like 17 | Disease-causing (★★) |
| CRB1 D564Y | 564 | Laminin G-like 1 | Disease-causing (★★) |
| CRB1 E1403Q | 1403 | Interaction with EPB41L5 | Disease-causing (★★) |
| CRB1 G1288S | 1288 | EGF-like 18 | Disease-causing (★★) |
| CRB1 S611P | 611 | Laminin G-like 1 | Disease-causing (★★) |
| CRB1 E710V | 710 | Extracellular | Disease-causing (★★) |
| CRB1 P836T | 836 | Laminin G-like 2 | Disease-causing (★★) |
Which prediction tools work for Pigmented paravenous retinochoroidal atrophy
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- SIFT: 98 out of 100
- REVEL: 97 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CATVariant: 95 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CADD: 93 out of 100
- PolyPhen-2: 92 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- phyloP: 88 out of 100
Same protein, different disease
- Leber congenital amaurosis is also caused by CRB1 variants; they fall mostly in different places as the Pigmented paravenous retinochoroidal atrophy variants (141 disease-causing).
- Retinitis pigmentosa is also caused by CRB1 variants; they fall mostly in different places as the Pigmented paravenous retinochoroidal atrophy variants (128 disease-causing).
Diseases related to Pigmented paravenous retinochoroidal atrophy
- Retinitis pigmentosa, also linked to CRB1
- Leber congenital amaurosis, also linked to CRB1
- Severe early-childhood-onset retinal dystrophy, also linked to CRB1
- Cone-rod dystrophy, also linked to CRB1
- Autosomal recessive retinitis pigmentosa, also linked to CRB1
Frequently asked questions
Which genes are linked to Pigmented paravenous retinochoroidal atrophy?
In CATVariant, Pigmented paravenous retinochoroidal atrophy is linked to 1 analyzed protein: CRB1 (Protein crumbs homolog 1).
How many genetic variants are linked to Pigmented paravenous retinochoroidal atrophy?
80 variants: 11 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 56 are of uncertain significance or have conflicting reports.
Which uncertain variants in Pigmented paravenous retinochoroidal atrophy look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
Which variant effect predictor works best for Pigmented paravenous retinochoroidal atrophy?
Among tools not trained on clinical labels, SIFT separates this disease's known disease-causing variants from harmless ones best (AUROC 0.98, based on 11 disease-causing and 17 harmless variants).
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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