Sudden cardiac death - previous panel
Gene: FKRPEnsemblGeneIds (GRCh38): ENSG00000181027
EnsemblGeneIds (GRCh37): ENSG00000181027
OMIM: 606596, Gene2Phenotype
FKRP is in 21 panels
1 review
Ellen McDonagh (Genomics England Curator)
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- London South GLH
- London South GLH
- Expert Review Green
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153
- Fukutin-related protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
- Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155
- Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612
- OMIM
- 606596
- Clinvar variants
- Variants in FKRP
- Penetrance
- None
- Publications
- Panels with this gene
-
- Dilated and arrhythmogenic cardiomyopathy
- Early onset or syndromic epilepsy
- Paediatric or syndromic cardiomyopathy
- Childhood onset dystonia, chorea or related movement disorder
- Structural eye disease
- Likely inborn error of metabolism
- Cerebellar hypoplasia
- Ataxia and cerebellar anomalies - narrow panel
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Arthrogryposis
- Acute rhabdomyolysis
- Fetal anomalies
- Undiagnosed metabolic disorders
- DDG2P
- Malformations of cortical development
- Intellectual disability
- Rhabdomyolysis and metabolic muscle disorders
- Hydrocephalus
- Congenital muscular dystrophy
- Bilateral congenital or childhood onset cataracts
- Congenital disorders of glycosylation
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: FKRP was added gene: FKRP was added to Sudden cardiac death. Sources: London South GLH,Expert Review Amber Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FKRP were set to 27604308 Phenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153; Fukutin-related protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612