Ataxia and cerebellar anomalies - childhood onset
Gene: FKTN
FKTN (fukutin)
EnsemblGeneIds (GRCh38): ENSG00000106692
EnsemblGeneIds (GRCh37): ENSG00000106692
OMIM: 607440, Gene2Phenotype
FKTN is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000106692
EnsemblGeneIds (GRCh37): ENSG00000106692
OMIM: 607440, Gene2Phenotype
FKTN is in 23 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Fukuyama Congenital Muscular Dystrophy
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
- Fukuyama congenital muscular dystrophy
- OMIM
- 607440
- Clinvar variants
- Variants in FKTN
- Penetrance
- None
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Cerebellar hypoplasia
- Ataxia and cerebellar anomalies - childhood onset
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- Malformations of cortical development
- Early onset or syndromic epilepsy
- Fetal anomalies
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Rhabdomyolysis and metabolic muscle disorders
- Hydrocephalus
- Congenital disorders of glycosylation
- Arthrogryposis
- Hereditary neuropathy or pain disorder
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy
- Bilateral congenital or childhood onset cataracts
- Structural eye disease
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
- Congenital muscular dystrophy
- Paediatric or syndromic cardiomyopathy
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: FKTN was added gene: FKTN was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FKTN were set to 9690476; 10545611 Phenotypes for gene: FKTN were set to Fukuyama Congenital Muscular Dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type; Fukuyama congenital muscular dystrophy