Structural eye disease
Gene: FKTNEnsemblGeneIds (GRCh38): ENSG00000106692
EnsemblGeneIds (GRCh37): ENSG00000106692
OMIM: 607440, Gene2Phenotype
FKTN is in 23 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
Kondo: report of case with microphthalmia and FCMD with compound heterozygous variants segregating in parents. Godfrey reported at least one case with microphthalmia with homozygous nonsense variant. Cotarelo reported one case with microphthalmia. Wood: morpholino treated zebrafish have smaller eyes and distorted vasculature.Created: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91
Variants in this GENE are reported as part of current diagnostic practice
Mariya Moosajee (Moorfields Eye Hospital)
Phenotypes
Muscular Dystrophy-Dystroglycanopathy, Type A, 4, MDDGA4
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- London North GLH
- Phenotypes
-
- Muscular Dystrophy-Dystroglycanopathy, Type A, 4, MDDGA4, 253800
- OMIM
- 607440
- Clinvar variants
- Variants in FKTN
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Hereditary neuropathy
- Early onset or syndromic epilepsy
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
- Intellectual disability
- Cerebellar hypoplasia
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Dilated Cardiomyopathy and conduction defects
- 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
Added New Source, Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to FKTN. Source NHS GMS was added to FKTN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Amber was added to FKTN. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: FKTN was added gene: FKTN was added to Structural eye disease. Sources: London North GLH Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FKTN were set to Muscular Dystrophy-Dystroglycanopathy, Type A, 4, MDDGA4, 253800