Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5: genes and variants
Explore variant evidence for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 across 1 analyzed protein (FKRP). Linked ClinVar records include 14 pathogenic or likely pathogenic variants, 33 variants of uncertain significance and 16 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 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
FKRP: Ribitol 5-phosphate transferase FKRP
It is required for proper glycosylation of alpha-dystroglycan, enabling muscle fibers and other cells to attach effectively to extracellular matrix. Biallelic pathogenic variants cause dystroglycanopathies ranging from limb-girdle muscular dystrophy to severe congenital muscular dystrophy with brain or eye involvement.
14 ClinVar pathogenic / likely pathogenic and 49 uncertain variants in FKRP have source records linked to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5. Association strength is not clinical gene validity.
Where Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 variants cluster
- FKRP Zinc finger loop (positions 289–318): 3 of 14 ClinVar pathogenic / likely pathogenic variants, 3.5× more than its size predicts.
ClinVar pathogenic and likely pathogenic variants linked to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| FKRP P89L | 89 | Lumenal | Pathogenic / likely pathogenic (★★) |
| FKRP P89A | 89 | Lumenal | Pathogenic / likely pathogenic (★★) |
| FKRP P316R | 316 | Zinc finger loop | Pathogenic / likely pathogenic (★★) |
| FKRP V338L | 338 | Lumenal | Pathogenic / likely pathogenic (★★) |
| FKRP V405L | 405 | Lumenal | Pathogenic / likely pathogenic (★★) |
| FKRP A157P | 157 | Lumenal | Pathogenic / likely pathogenic (★★) |
| FKRP P89S | 89 | Lumenal | Pathogenic / likely pathogenic (★) |
| FKRP C318Y | 318 | Zinc finger loop | Pathogenic / likely pathogenic (★) |
| FKRP C168Y | 168 | Lumenal | Pathogenic / likely pathogenic (★) |
| FKRP S221R | 221 | Lumenal | Pathogenic / likely pathogenic (★) |
| FKRP E443K | 443 | Lumenal | Pathogenic / likely pathogenic (★) |
| FKRP I356T | 356 | Lumenal | Pathogenic / likely pathogenic (★) |
| FKRP A321E | 321 | Lumenal | Pathogenic / likely pathogenic |
| FKRP R295G | 295 | Zinc finger loop | Pathogenic / likely pathogenic |
Uncertain variants prioritized for review in Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| FKRP P316S | 316 | Zinc finger loop | Conflicting reports (★) | +6: 2 other pathogenic changes within 3 positions; P316R at the same position is pathogenic; REVEL 0.902 |
Same protein, different disease
- Walker-Warburg congenital muscular dystrophy also has ClinVar records linked to FKRP variants; they fall mostly in different places as the Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 variants (44 pathogenic / likely pathogenic).
- Autosomal recessive limb-girdle muscular dystrophy also has ClinVar records linked to FKRP variants; they fall mostly in different places as the Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 variants (20 pathogenic / likely pathogenic).
- Muscular dystrophy-dystroglycanopathy also has ClinVar records linked to FKRP variants; they fall mostly in different places as the Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 variants (6 pathogenic / likely pathogenic).
Diseases related to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
- Autosomal recessive limb-girdle muscular dystrophy, also linked to FKRP
- Walker-Warburg congenital muscular dystrophy, also linked to FKRP
- Muscular dystrophy, also linked to FKRP
- Muscular dystrophy-dystroglycanopathy, also linked to FKRP
Frequently asked questions
Which genes have records linked to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5?
This view contains 1 analyzed proteins: FKRP. 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 14 pathogenic or likely pathogenic variants, 33 variants of uncertain significance and 16 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. 1 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 95 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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