TEST Undiagnosed metabolic disorders
Gene: FKTN

FKTN (fukutin)
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
Literature

OMIM

607440

Clinvar variants

Variants in FKTN

Penetrance

None

Publications

27604308

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
Dilated Cardiomyopathy and conduction defects
Structural eye disease
Ataxia and cerebellar anomalies - narrow panel
Arthrogryposis
Malformations of cortical development
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
Hereditary neuropathy or pain disorder
Early onset or syndromic epilepsy
Fetal anomalies
DDG2P
Hereditary neuropathy
Congenital muscular dystrophy

History Filter Activity

20 Aug 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications

Sarah Leigh (Genomics England Curator)

gene: FKTN was added gene: FKTN was added to TEST Undiagnosed metabolic disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FKTN were set to 27604308

TEST Undiagnosed metabolic disorders Gene: FKTN

0 reviews

Details

History Filter Activity

Created, Added New Source, Set mode of inheritance, Set publications

TEST Undiagnosed metabolic disorders
Gene: FKTN