Arthrogryposis
Gene: FKRPEnsemblGeneIds (GRCh38): ENSG00000181027
EnsemblGeneIds (GRCh37): ENSG00000181027
OMIM: 606596, Gene2Phenotype
FKRP is in 21 panels
2 reviews
Alice Gardham (Genomics England)
Emma Clement (Great Ormond Street Hospital)
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
- OMIM
- 606596
- Clinvar variants
- Variants in FKRP
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Congenital muscular dystrophy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Bilateral congenital or childhood onset cataracts
- Undiagnosed metabolic disorders
- Congenital disorders of glycosylation
- Intellectual disability
- Early onset or syndromic epilepsy
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Cerebellar hypoplasia
- Structural eye disease
- Dilated and arrhythmogenic cardiomyopathy
- Malformations of cortical development
- Hydrocephalus
- Ataxia and cerebellar anomalies - narrow panel
- Likely inborn error of metabolism
- Paediatric or syndromic cardiomyopathy
- Acute rhabdomyolysis
- Rhabdomyolysis and metabolic muscle disorders
- Arthrogryposis
History Filter Activity
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)FKRP was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen FKRP was added to Arthrogryposispanel. Source: Emory Genetics Laboratory FKRP was added to Arthrogryposispanel. Source: UKGTN FKRP was added to Arthrogryposispanel. Source:
Created
Ellen McDonagh (Genomics England Curator)FKRP was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)FKRP was added to Arthrogryposispanel. Sources: Expert list