Malformations of cortical development
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
2 reviews
Alice Gardham (Genomics England)
Comment when marking as ready: Recognised on G2PCreated: 15 Dec 2016, 3:49 p.m.
Usha Kini (Oxford Centre for Genomic Medicine)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscle- eye- brain disease; Warburg syndrome
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Muscle- eye- brain disease
- Warburg syndrome
- OMIM
- 606596
- Clinvar variants
- Variants in FKRP
- Penetrance
- Complete
- Panels with this gene
-
- Early onset or syndromic epilepsy
- Cerebellar hypoplasia
- Ataxia and cerebellar anomalies - childhood onset
- Undiagnosed metabolic disorders
- Fetal anomalies
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Rhabdomyolysis and metabolic muscle disorders
- Hydrocephalus
- Malformations of cortical development
- Congenital disorders of glycosylation
- Intellectual disability
- Arthrogryposis
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Bilateral congenital or childhood onset cataracts
- Structural eye disease
- Dilated and arrhythmogenic cardiomyopathy
- Acute rhabdomyolysis
- DDG2P
- Congenital muscular dystrophy
- Paediatric or syndromic cardiomyopathy
History Filter Activity
15 Dec 2016, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
15 Dec 2016, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
15 Dec 2016, Gel status: 0
Upload gene information
Alice Gardham (Genomics England)FKRP was added to Malformations of cortical developmentpanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
8 Dec 2016, Gel status: 0
Added New Source
Usha Kini (Oxford Centre for Genomic Medicine)FKRP was added to Malformations of cortical developmentpanel. Sources: Expert Review
8 Dec 2016, Gel status: 0
Created
Usha Kini (Oxford Centre for Genomic Medicine)FKRP was created by Ushak