Congenital disorders of glycosylation
Gene: FKRPEnsemblGeneIds (GRCh38): ENSG00000181027
EnsemblGeneIds (GRCh37): ENSG00000181027
OMIM: 606596, Gene2Phenotype
FKRP is in 21 panels
3 reviews
Rebecca Foulger (Genomics England curator)
GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=Q9H9S5-1Created: 9 Jan 2020, 2:33 p.m. | Last Modified: 9 Jan 2020, 2:33 p.m.
Panel Version: 2.0
Sarah Leigh (Genomics England Curator)
GlyGen link updated April 2021: https://www.glygen.org/protein/Q9H9S5-1#DiseaseCreated: 8 Apr 2021, 12:24 p.m. | Last Modified: 8 Apr 2021, 12:24 p.m.
Panel Version: 2.66
Comment when marking as ready: Associated with phenotypes in OMIM and as a confirmed Developmental Disorder Gene / G2P. At numerous variants reported.Created: 19 Dec 2016, 9:38 a.m.
Daniel Ungar (University of York, Department of Biology)
dystroglycanopathyCreated: 12 Dec 2016, 2:31 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Literature
- Emory Genetics Laboratory
- Phenotypes
-
- 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 606612
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155
- OMIM
- 606596
- Clinvar variants
- Variants in FKRP
- Penetrance
- Complete
- Publications
- 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
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 19th December 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for FKRP were set to 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 606612; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155
Set publications
Sarah Leigh (Genomics England Curator)Publications for FKRP were set to 27421908
Added New Source
Sarah Leigh (Genomics England Curator)FKRP was added to Congenital disorders of glycosylationpanel. Source: UKGTN
Added New Source
Sarah Leigh (Genomics England Curator)FKRP was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)FKRP was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Created
Sarah Leigh (Genomics England Curator)FKRP was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)FKRP was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory