This Panel is marked as Deleted
Epileptic encephalopathy Victorian Clinical Genetics Services
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
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 606596
- Clinvar variants
- Variants in FKRP
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Cerebellar hypoplasia
- Acute rhabdomyolysis
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
- Intellectual disability
- Ataxia and cerebellar anomalies - narrow panel
- Undiagnosed metabolic disorders
- Structural eye disease
- Childhood onset dystonia, chorea or related movement disorder
- Malformations of cortical development
- Hydrocephalus
- Rhabdomyolysis and metabolic muscle disorders
- Bilateral congenital or childhood onset cataracts
- Fetal anomalies
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Early onset or syndromic epilepsy
- Congenital disorders of glycosylation
- Congenital muscular dystrophy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)FKRP was added to Epileptic encephalopathy Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)FKRP was created by Sarah Leigh