Cataract
Gene: FKTNEnsemblGeneIds (GRCh38): ENSG00000106692
EnsemblGeneIds (GRCh37): ENSG00000106692
OMIM: 607440, Gene2Phenotype
FKTN is in 21 panels
1 review
Seb Lunke (Victorian Clinical Genetics Services)
Small number of patients (~2/10) with muscular dystrophy caused by FKTN variants have been described to have congenital cataract.Created: 8 Jul 2020, 4:51 a.m. | Last Modified: 8 Jul 2020, 4:51 a.m.
Panel Version: 0.180
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Limb Girdle Muscular Dystrophy with No Mental Retardation; Congenital Cataract
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Victorian Clinical Genetics Services
- Phenotypes
-
- Limb Girdle Muscular Dystrophy with No Mental Retardation
- Congenital Cataract
- OMIM
- 607440
- Clinvar variants
- Variants in FKTN
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cerebellar and Pontocerebellar Hypoplasia
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- Cobblestone Malformations
- Prepair 1000+
- Cardiomyopathy_Paediatric
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Hydrocephalus_Ventriculomegaly
- Muscular dystrophy and myopathy_Paediatric
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Congenital Disorders of Glycosylation
- Fetal anomalies
- Additional findings_Paediatric
- Arthrogryposis
- Mendeliome
- Dilated Cardiomyopathy
- Cataract
- Prepair 500+
- Callosome
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fktn has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: FKTN were changed from to Limb Girdle Muscular Dystrophy with No Mental Retardation; Congenital Cataract
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: FKTN were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: FKTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fktn has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FKTN was added gene: FKTN was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FKTN was set to Unknown