Rhabdomyolysis and Metabolic Myopathy
Gene: FKRPEnsemblGeneIds (GRCh38): ENSG00000181027
EnsemblGeneIds (GRCh37): ENSG00000181027
OMIM: 606596, Gene2Phenotype
FKRP is in 22 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
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)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155
- OMIM
- 606596
- Clinvar variants
- Variants in FKRP
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cerebellar and Pontocerebellar Hypoplasia
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- Cobblestone Malformations
- Prepair 1000+
- Cardiomyopathy_Paediatric
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Transplant Co-Morbidity Superpanel
- Genetic Epilepsy
- Hydrocephalus_Ventriculomegaly
- Muscular dystrophy and myopathy_Paediatric
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Congenital Disorders of Glycosylation
- Fetal anomalies
- Additional findings_Paediatric
- Arthrogryposis
- Mendeliome
- Dilated Cardiomyopathy
- Cataract
- Prepair 500+
- Callosome
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: fkrp has been classified as Green List (High Evidence).
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: FKRP were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: FKRP was added gene: FKRP was added to Rhabdomyolysis_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 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155