Prepair 500+
Gene: FKRP
Well established gene-disease association.
Variable severity and age of onset (1-40yo) noted in OMIM for
- Muscular dystrophy-dystroglycanopathy (congenital with or without intellectual development), type B, 5 (MIM#606612) and
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (MIM#607155)
PMID: 38277301: The p.(Leu276Ile) homozygote variant is associated with mild LGMD2I, whereas variants such as p.(Pro448Leu) and other relatively rare variants, including nonsense mutations, are associated with severe CMD types. Compound heterozygotes of p.(Leu276Ile) and CMD-related mutations often present as a Duchenne-like phenotype.
NB: ClinGen has grouped all three MIM# as 'Myopathy caused by variation in FKRP MONDO:0700066'Created: 14 Nov 2024, 6:24 a.m. | Last Modified: 14 Nov 2024, 6:24 a.m.
Panel Version: 1.547
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 (MIM#613153); Muscular dystrophy-dystroglycanopathy (congenital with or without intellectual development), type B, 5 (MIM#606612); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (MIM#607155)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: fkrp has been classified as Green List (High Evidence).
Phenotypes for gene: FKRP were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 (MIM#613153); Muscular dystrophy-dystroglycanopathy (congenital with or without intellectual development), type B, 5 (MIM#606612); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (MIM#607155)
Publications for gene: FKRP were set to
gene: FKRP was added gene: FKRP was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3)