Cerebellar hypoplasia
Gene: FKRPEnsemblGeneIds (GRCh38): ENSG00000181027
EnsemblGeneIds (GRCh37): ENSG00000181027
OMIM: 606596, Gene2Phenotype
FKRP is in 21 panels
1 review
Alice Gardham (Genomics England)
Cerebellar abnormalities are a feature of MEB diseaseCreated: 16 Nov 2016, 9:35 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
- OMIM
- 606596
- Clinvar variants
- Variants in FKRP
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Congenital disorders of glycosylation
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Childhood onset dystonia, chorea or related movement disorder
- Cerebellar hypoplasia
- Undiagnosed metabolic disorders
- Structural eye disease
- Ataxia and cerebellar anomalies - narrow panel
- Arthrogryposis
- Malformations of cortical development
- Early onset or syndromic epilepsy
- Dilated and arrhythmogenic cardiomyopathy
- Hydrocephalus
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Rhabdomyolysis and metabolic muscle disorders
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Fetal anomalies
- DDG2P
- Acute rhabdomyolysis
- Congenital muscular dystrophy
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)22/02/2017: Panel revised after internal clinical review and further curation.
Set publications
Alice Gardham (Genomics England)Publications for FKRP were set to 15121789
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for FKRP was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Created
Ellen McDonagh (Genomics England Curator)FKRP was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)FKRP was added to Cerebellar hypoplasiapanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN