Rhabdomyolysis and metabolic muscle disorders
Gene: FKRP
FKRP (fukutin related protein)
EnsemblGeneIds (GRCh38): ENSG00000181027
EnsemblGeneIds (GRCh37): ENSG00000181027
OMIM: 606596, Gene2Phenotype
FKRP is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000181027
EnsemblGeneIds (GRCh37): ENSG00000181027
OMIM: 606596, Gene2Phenotype
FKRP is in 21 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 9 variants reported.Created: 2 Dec 2016, 11:28 a.m.
Comment on phenotypes: Also associated with Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153, Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612Created: 2 Dec 2016, 11:27 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155
- OMIM
- 606596
- Clinvar variants
- Variants in FKRP
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Congenital disorders of glycosylation
- Early onset or syndromic epilepsy
- Cerebellar hypoplasia
- Structural eye disease
- Likely inborn error of metabolism
- Dilated and arrhythmogenic cardiomyopathy
- Paediatric or syndromic cardiomyopathy
- Malformations of cortical development
- Hydrocephalus
- Ataxia and cerebellar anomalies - narrow panel
- Intellectual disability
- Rhabdomyolysis and metabolic muscle disorders
- Arthrogryposis
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Acute rhabdomyolysis
- Congenital muscular dystrophy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Fetal anomalies
- Bilateral congenital or childhood onset cataracts
History Filter Activity
4 Jan 2017, Gel status: 4
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Panel promoted to V1 4th January 2017
2 Dec 2016, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
2 Dec 2016, Gel status: 3
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for FKRP were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155
1 Dec 2016, Gel status: 3
Added New Source
Sarah Leigh (Genomics England Curator)FKRP was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
1 Dec 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)FKRP was created by sleigh