Goldmann-Favre syndrome: genes and variants
Explore variant evidence for Goldmann-Favre syndrome across 1 analyzed protein (NR2E3). Linked ClinVar records include 12 pathogenic or likely pathogenic variants, 30 variants of uncertain significance and 15 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Source labels are pooled across this disease family.
Data updated 2026-10-10. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Goldmann-Favre syndrome
NR2E3: Photoreceptor-specific nuclear receptor
It directs rod-photoreceptor differentiation while repressing inappropriate cone gene programs during retinal development. Pathogenic variants cause enhanced S-cone syndrome, retinitis pigmentosa, and related inherited retinal dystrophies.
12 ClinVar pathogenic / likely pathogenic and 45 uncertain variants in NR2E3 have source records linked to Goldmann-Favre syndrome. Association strength is not clinical gene validity.
Where Goldmann-Favre syndrome variants cluster
- NR2E3 Nuclear receptor (positions 44–120): 6 of 12 ClinVar pathogenic / likely pathogenic variants, 2.7× more than its size predicts.
ClinVar pathogenic and likely pathogenic variants linked to Goldmann-Favre syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| NR2E3 R309G | 309 | NR LBD | Pathogenic / likely pathogenic (★★) |
| NR2E3 R311Q | 311 | NR LBD | Pathogenic / likely pathogenic (★★) |
| NR2E3 R76Q | 76 | Nuclear receptor | Pathogenic / likely pathogenic (★★) |
| NR2E3 Y81C | 81 | Nuclear receptor | Pathogenic / likely pathogenic (★★) |
| NR2E3 R97H | 97 | Nuclear receptor | Pathogenic / likely pathogenic (★★) |
| NR2E3 A102D | 102 | Nuclear receptor | Pathogenic / likely pathogenic (★★) |
| NR2E3 R104W | 104 | Nuclear receptor | Pathogenic / likely pathogenic (★★) |
| NR2E3 V118M | 118 | Nuclear receptor | Pathogenic / likely pathogenic (★★) |
| NR2E3 G216S | 216 | NR LBD | Pathogenic / likely pathogenic (★★) |
| NR2E3 V342A | 342 | NR LBD | Pathogenic / likely pathogenic (★★) |
| NR2E3 M407K | 407 | NR LBD | Pathogenic / likely pathogenic (★★) |
| NR2E3 R309L | 309 | NR LBD | Pathogenic / likely pathogenic (★) |
Which prediction tools work for Goldmann-Favre syndrome
Observed separation of ClinVar pathogenic / likely pathogenic from benign / likely benign variants (AUROC × 100). This benchmark is not a clinical recommendation.
- PolyPhen-2: 86 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CADD: 79 out of 100
- SIFT: 79 out of 100
- CATVariant: 77 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- phyloP: 70 out of 100
Same protein, different disease
- Retinitis pigmentosa also has ClinVar records linked to NR2E3 variants; they fall mostly in different places as the Goldmann-Favre syndrome variants (11 pathogenic / likely pathogenic).
Diseases related to Goldmann-Favre syndrome
- Retinitis pigmentosa, also linked to NR2E3
Frequently asked questions
Which genes have records linked to Goldmann-Favre syndrome?
This view contains 1 analyzed proteins: NR2E3. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 12 pathogenic or likely pathogenic variants, 30 variants of uncertain significance and 15 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 79 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses 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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