Walker-Warburg congenital muscular dystrophy: genes and variants
Walker-Warburg congenital muscular dystrophy is linked to 1 analyzed protein (FKRP). 44 DNA variants are known to cause it; 329 more are uncertain, and 10 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Walker-Warburg congenital muscular dystrophy
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.
44 disease-causing and 329 uncertain variants in FKRP are linked to Walker-Warburg congenital muscular dystrophy.
Where Walker-Warburg congenital muscular dystrophy variants cluster
- FKRP Zinc finger loop (positions 289–318): 10 of 44 disease-causing changes, 3.8× more than its size predicts.
Known disease-causing variants in Walker-Warburg congenital muscular dystrophy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| FKRP R54W | 54 | Lumenal | Disease-causing (★★) |
| FKRP R54G | 54 | Lumenal | Disease-causing (★★) |
| FKRP T314M | 314 | Zinc finger loop | Disease-causing (★★) |
| FKRP P316T | 316 | Zinc finger loop | Disease-causing (★★) |
| FKRP P316R | 316 | Zinc finger loop | Disease-causing (★★) |
| FKRP I367T | 367 | Lumenal | Disease-causing (★★) |
| FKRP P462S | 462 | Lumenal | Disease-causing (★★) |
| FKRP N463D | 463 | Lumenal | Disease-causing (★★) |
| FKRP R275C | 275 | Lumenal | Disease-causing (★★) |
| FKRP G345A | 345 | Lumenal | Disease-causing (★★) |
| FKRP Y307N | 307 | Zinc finger loop | Disease-causing (★★) |
| FKRP P89A | 89 | Lumenal | Disease-causing (★★) |
| FKRP P448L | 448 | Lumenal | Disease-causing (★★) |
| FKRP A455D | 455 | Lumenal | Disease-causing (★★) |
| FKRP P117R | 117 | Lumenal | Disease-causing (★★) |
| FKRP Y182C | 182 | Lumenal | Disease-causing (★★) |
| FKRP V300A | 300 | Zinc finger loop | Disease-causing (★★) |
| FKRP V338L | 338 | Lumenal | Disease-causing (★★) |
| FKRP A157P | 157 | Lumenal | Disease-causing (★★) |
| FKRP G288V | 288 | Lumenal | Disease-causing (★) |
| FKRP G288R | 288 | Lumenal | Disease-causing (★) |
| FKRP P316A | 316 | Zinc finger loop | Disease-causing (★) |
| FKRP I367N | 367 | Lumenal | Disease-causing (★) |
| FKRP P462L | 462 | Lumenal | Disease-causing (★) |
| FKRP R54Q | 54 | Lumenal | Disease-causing (★) |
| FKRP R312S | 312 | Zinc finger loop | Disease-causing (★) |
| FKRP N463S | 463 | Lumenal | Disease-causing (★) |
| FKRP R312P | 312 | Zinc finger loop | Disease-causing (★) |
| FKRP T314A | 314 | Zinc finger loop | Disease-causing (★) |
| FKRP R352P | 352 | Lumenal | Disease-causing (★) |
| FKRP D360N | 360 | Lumenal | Disease-causing (★) |
| FKRP V405M | 405 | Lumenal | Disease-causing (★) |
| FKRP N463K | 463 | Lumenal | Disease-causing (★) |
| FKRP V405L | 405 | Lumenal | Disease-causing (★) |
| FKRP V51F | 51 | Lumenal | Disease-causing (★) |
| FKRP V329M | 329 | Lumenal | Disease-causing (★) |
| FKRP V160F | 160 | Lumenal | Disease-causing (★) |
| FKRP G196V | 196 | Lumenal | Disease-causing (★) |
| FKRP R339P | 339 | Lumenal | Disease-causing (★) |
| FKRP V363L | 363 | Lumenal | Disease-causing (★) |
| FKRP M1L | 1 | Cytoplasmic | Disease-causing (★) |
| FKRP T293A | 293 | Zinc finger loop | Disease-causing (★) |
| FKRP I478V | 478 | Lumenal | Disease-causing (★) |
| FKRP A321E | 321 | Lumenal | Disease-causing |
Uncertain variants in Walker-Warburg congenital muscular dystrophy that look disease-causing
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| FKRP R339H | 339 | Lumenal | Conflicting reports (★) | +7: 2 other pathogenic changes within 3 positions; R339P at the same position is pathogenic; seen in 4.9e-06 of gnomAD DNA copies; REVEL 0.844 |
| FKRP G288S | 288 | Lumenal | Conflicting reports (★) | +7: 2 other pathogenic changes within 3 positions; G288V at the same position is pathogenic; seen in 7.2e-07 of gnomAD DNA copies; REVEL 0.883 |
| FKRP R339G | 339 | Lumenal | Conflicting reports (★) | +7: 2 other pathogenic changes within 3 positions; R339P at the same position is pathogenic; seen in 6.6e-06 of gnomAD DNA copies; REVEL 0.857 |
| FKRP R339S | 339 | Lumenal | Uncertain (★) | +7: 2 other pathogenic changes within 3 positions; R339P at the same position is pathogenic; seen in 7e-07 of gnomAD DNA copies; REVEL 0.778 |
| FKRP R312G | 312 | Zinc finger loop | Conflicting reports (★) | +6: 4 other pathogenic changes within 3 positions; R312S at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.93 |
| FKRP P316S | 316 | Zinc finger loop | Conflicting reports (★) | +6: 5 other pathogenic changes within 3 positions; P316A at the same position is pathogenic; REVEL 0.902 |
| FKRP R312L | 312 | Zinc finger loop | Conflicting reports (★) | +6: 4 other pathogenic changes within 3 positions; R312S at the same position is pathogenic; seen in 0 of gnomAD DNA copies; REVEL 0.697 |
| FKRP A321T | 321 | Lumenal | Conflicting reports (★) | +6: in a 3D region that tolerates change poorly (3R); A321E at the same position is pathogenic; seen in 7e-07 of gnomAD DNA copies; REVEL 0.717 |
| FKRP R312H | 312 | Zinc finger loop | Uncertain (★) | +6: 4 other pathogenic changes within 3 positions; R312S at the same position is pathogenic; seen in 1.4e-06 of gnomAD DNA copies; REVEL 0.751 |
| FKRP V363A | 363 | Lumenal | Uncertain (★) | +6: 2 other pathogenic changes within 3 positions; V363L at the same position is pathogenic; seen in 6.9e-07 of gnomAD DNA copies; REVEL 0.754 |
Same protein, different disease
- Autosomal recessive limb-girdle muscular dystrophy is also caused by FKRP variants; they fall in the same places as the Walker-Warburg congenital muscular dystrophy variants (20 disease-causing).
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 is also caused by FKRP variants; they fall partly in the same places as the Walker-Warburg congenital muscular dystrophy variants (13 disease-causing).
Diseases related to Walker-Warburg congenital muscular dystrophy
- Autosomal recessive limb-girdle muscular dystrophy, also linked to FKRP
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, also linked to FKRP
- Muscular dystrophy, also linked to FKRP
- Muscular dystrophy-dystroglycanopathy type B5, also linked to FKRP
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, also linked to FKRP
Frequently asked questions
Which genes are linked to Walker-Warburg congenital muscular dystrophy?
In CATVariant, Walker-Warburg congenital muscular dystrophy is linked to 1 analyzed protein: FKRP (Ribitol 5-phosphate transferase FKRP).
How many genetic variants are linked to Walker-Warburg congenital muscular dystrophy?
374 variants: 44 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 329 are of uncertain significance or have conflicting reports.
Which uncertain variants in Walker-Warburg congenital muscular dystrophy look disease-causing?
10 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example FKRP R339H, FKRP G288S, FKRP R339G, FKRP R339S and FKRP R312G. These are leads for expert review, not diagnoses.
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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