Bilateral congenital or childhood onset cataracts
Gene: FKTNEnsemblGeneIds (GRCh38): ENSG00000106692
EnsemblGeneIds (GRCh37): ENSG00000106692
OMIM: 607440, Gene2Phenotype
FKTN is in 23 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
- Saito et al (2010) Am J Med Genet 92:184-190
- Cotarelo et al (2008) Clin Genet 73:139-145
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: We discussed and agreed internally that all genes within the Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) phenotypic series available on OMIM should be demoted to red, as it is unlikely that these conditions would present with cataracts as a main feature.Created: 27 Jun 2016, 4:26 p.m.
Is on the Manchester congenital cataracts gene panel, and is a confirmed DD gene for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A4 (includes cataract as a phenotype).Created: 29 Apr 2016, 11:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- UKGTN
- Phenotypes
-
- Confirmed DD gene for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A4
- OMIM
- 607440
- Clinvar variants
- Variants in FKTN
- Penetrance
- Complete
- Publications
-
- Saito et al (2010) Am J Med Genet 92:184-190
- Cotarelo et al (2008) Clin Genet 73:139-145
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Congenital muscular dystrophy
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Hereditary neuropathy
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
- 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
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Structural eye disease
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Early onset or syndromic epilepsy
- Fetal anomalies
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for FKTN were set to Confirmed DD gene for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A4
Set publications
Ellen McDonagh (Genomics England Curator)Publications for FKTN were set to Saito et al (2010) Am J Med Genet 92:184-190; Cotarelo et al (2008) Clin Genet 73:139-145
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for FKTN was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()FKTN was added to Cataractspanel. Sources: UKGTN