Dilated Cardiomyopathy
Gene: FKRPEnsemblGeneIds (GRCh38): ENSG00000181027
EnsemblGeneIds (GRCh37): ENSG00000181027
OMIM: 606596, Gene2Phenotype
FKRP is in 22 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
PMID: 32914449 - reviewed 56 patients w/ LGMD R9 and biallelic FKRP mutations. Dilated cardiomyopathy detected in 45% of patients with a median age of 54 years for patients homozygous for the common founder c.826C>A, compared to 18 years of age for other genotypes.
Sources: LiteratureCreated: 11 Nov 2020, 10:24 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153
Publications
- PMID: 32914449
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155
- OMIM
- 606596
- Clinvar variants
- Variants in FKRP
- Penetrance
- None
- Publications
-
- PMID: 32914449
- 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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fkrp has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: FKRP were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fkrp has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)gene: FKRP was added gene: FKRP was added to Dilated Cardiomyopathy. Sources: Literature Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FKRP were set to PMID: 32914449 Phenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 Review for gene: FKRP was set to GREEN