Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: FKRP

Green List (high evidence)

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established gene-disease association. Biallelic loss of function variants cause disease. A continuum of phenotypes based on the residual α-Dystroglycan glycosylation activity, with higher activity correlating to a less severe presentation, includes congenital muscle-eye-brain or Walker-Warburg Syndrome or later-onset limb-girdle muscular dystophy.
Created: 10 May 2022, 7:26 a.m. | Last Modified: 10 May 2022, 7:26 a.m.
Panel Version: 0.14049

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy MONDO:0018276

Publications

Variants in this GENE are reported as part of current diagnostic practice

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Established muscular dystrophy gene.
Created: 11 Jun 2020, 8:16 a.m. | Last Modified: 11 Jun 2020, 8:16 a.m.
Panel Version: 0.148

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 mental retardation), type B, 5, MIM# 606612

History Filter Activity

19 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

19 Apr 2023, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: FKRP were set to

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: FKRP was added gene: FKRP was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FKRP were set to Limb-girdle muscular dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type