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
-
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Arthrogryposis
- Ataxia and cerebellar anomalies - narrow panel
- Paediatric or syndromic cardiomyopathy
- Childhood onset dystonia, chorea or related movement disorder
- Structural eye disease
- Hydrocephalus
- Cerebellar hypoplasia
- Intellectual disability
- Fetal anomalies
- Malformations of cortical development
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Congenital muscular dystrophy
- Early onset or syndromic epilepsy
- Undiagnosed metabolic disorders
- Rhabdomyolysis and metabolic muscle disorders
- Dilated and arrhythmogenic cardiomyopathy
- Congenital disorders of glycosylation
- DDG2P
- Bilateral congenital or childhood onset cataracts
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