Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: FKRPEnsemblGeneIds (GRCh38): ENSG00000181027
EnsemblGeneIds (GRCh37): ENSG00000181027
OMIM: 606596, Gene2Phenotype
FKRP is in 21 panels
1 review
Sarah Leigh (Genomics England Curator)
Listed as associated with Limb Girdle Muscular Dystrophy by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 8:23 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
- Limb-girdle muscular dystrophy
- OMIM
- 606596
- Clinvar variants
- Variants in FKRP
- Penetrance
- Complete
- Publications
-
- http://www.ncbi.nlm.nih.gov/books/NBK1408/
- Panels with this gene
-
- Intellectual disability
- Cerebellar hypoplasia
- Likely inborn error of metabolism
- Paediatric or syndromic cardiomyopathy
- Bilateral congenital or childhood onset cataracts
- Undiagnosed metabolic disorders
- Rhabdomyolysis and metabolic muscle disorders
- Dystonia, chorea or related movement disorder, childhood onset
- Ataxia and cerebellar anomalies - childhood onset
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Hydrocephalus
- Congenital disorders of glycosylation
- Arthrogryposis
- Fetal anomalies
- Structural eye disease
- Early onset or syndromic epilepsy
- DDG2P
- Acute rhabdomyolysis
- Dilated and arrhythmogenic cardiomyopathy
- Malformations of cortical development
- Congenital muscular dystrophy
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen Thomas (Genomics England Curator)Publications for FKRP were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for FKRP was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)FKRP was added to Limb girdle muscular dystrophypanel. Sources: Eligibility statement prior genetic testing
Added New Source
Ellen McDonagh (Genomics England Curator)FKRP was added to Limb girdle muscular dystrophypanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)FKRP was added to Limb girdle muscular dystrophypanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)FKRP was added to Limb girdle muscular dystrophypanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen