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Gene: FKRP

Green List (high evidence)
FKRP (fukutin related protein)
EnsemblGeneIds (GRCh38): ENSG00000181027
EnsemblGeneIds (GRCh37): ENSG00000181027
OMIM: 606596, Gene2Phenotype
FKRP is in 22 panels

1 review

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

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

Created: 14 Nov 2024, 6:24 a.m.
Last Modified: 14 Nov 2024, 6:24 a.m.
Panel version: 1.547

History Filter Activity

21 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: fkrp has been classified as Green List (High Evidence).

21 Nov 2024, Gel status: 3

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: FKRP were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3) to Myopathy caused by variation in FKRP MONDO:0700066

21 Nov 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: FKRP were set to 38277301

21 Nov 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: FKRP were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3) for gene: FKRP

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FKRP was added gene: FKRP was added to Reproductive Carrier Screen_VCGS. 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)