Cerebellar hypoplasia
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Phenotypes
-
- Fukuyama congenital muscular dystrophy
- Fukuyama Congenital Muscular Dystrophy
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
- OMIM
- 607440
- Clinvar variants
- Variants in FKTN
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Hereditary neuropathy
- Dilated and arrhythmogenic cardiomyopathy
- Early onset or syndromic epilepsy
- DDG2P
- Cerebellar hypoplasia
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Dilated Cardiomyopathy and conduction defects
- Intellectual disability
- Malformations of cortical development
- Bilateral congenital or childhood onset cataracts
- Congenital disorders of glycosylation
- Likely inborn error of metabolism
- Hydrocephalus
- Ataxia and cerebellar anomalies - narrow panel
- Structural eye disease
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Congenital muscular dystrophy
History Filter Activity
22 Feb 2017, Gel status: 4
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)22/02/2017: Panel revised after internal clinical review and further curation.
2 Feb 2017, Gel status: 4
Set publications
Ellen McDonagh (Genomics England Curator)Publications for FKTN were set to 9690476;10545611
21 Dec 2016, Gel status: 4
Set publications
Alice Gardham (Genomics England)Publications for FKTN were set to 9690476,10545611
16 Nov 2016, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
14 Nov 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)FKTN was added to Cerebellar hypoplasiapanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
14 Nov 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)FKTN was created by ellenmcdonagh