Malformations of cortical development
Gene: FKTNEnsemblGeneIds (GRCh38): ENSG00000106692
EnsemblGeneIds (GRCh37): ENSG00000106692
OMIM: 607440, Gene2Phenotype
FKTN is in 23 panels
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: Can be caused by insertion in 3' UTRCreated: 19 Dec 2016, 11:48 a.m.
Comment on mode of pathogenicity: Can be an insertion in the 3' UTRCreated: 19 Dec 2016, 11:47 a.m.
Recognised on G2PCreated: 19 Dec 2016, 11:46 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800
- Tags
- OMIM
- 607440
- Clinvar variants
- Variants in FKTN
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Other - please provide details in the comments
- 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
- Fetal anomalies
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Rhabdomyolysis and metabolic muscle disorders
- Hydrocephalus
- Congenital disorders of glycosylation
- Early onset or syndromic epilepsy
- 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
- Malformations of cortical development
- Congenital muscular dystrophy
- Paediatric or syndromic cardiomyopathy
History Filter Activity
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set mode of pathogenicity
Alice Gardham (Genomics England)Mode of pathogenicity for FKTN was changed to Other - please provide details in the comments
Added New Source
Alice Gardham (Genomics England)FKTN was added to Malformations of cortical developmentpanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Created
Alice Gardham (Genomics England)FKTN was created by agardham