Hydrocephalus
Gene: FKTNEnsemblGeneIds (GRCh38): ENSG00000106692
EnsemblGeneIds (GRCh37): ENSG00000106692
OMIM: 607440, Gene2Phenotype
FKTN is in 23 panels
2 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Helen Brittain (Genomics England Curator)
Several families reported. Hydrocephalus is a recurring featureCreated: 9 May 2017, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Literature
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, OMIM:253800
- OMIM
- 607440
- Clinvar variants
- Variants in FKTN
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Congenital disorders of glycosylation
- Early onset or syndromic epilepsy
- Cerebellar hypoplasia
- Dilated Cardiomyopathy and conduction defects
- Structural eye disease
- Likely inborn error of metabolism
- Dilated and arrhythmogenic cardiomyopathy
- Paediatric or syndromic cardiomyopathy
- Malformations of cortical development
- Hydrocephalus
- Ataxia and cerebellar anomalies - narrow panel
- Intellectual disability
- Rhabdomyolysis and metabolic muscle disorders
- Arthrogryposis
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary neuropathy or pain disorder
- DDG2P
- Hereditary neuropathy
- Congenital muscular dystrophy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Fetal anomalies
- Bilateral congenital or childhood onset cataracts
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: FKTN were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, OMIM:253800
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to FKTN.
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31.05.2017 - panel revised after internal curation and clinical review.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)FKTN was added to Hydrocephaluspanel. Source: Expert Review Green
Created
Helen Brittain (Genomics England Curator)FKTN was created by helen.brittain
Added New Source
Helen Brittain (Genomics England Curator)FKTN was added to Hydrocephaluspanel. Sources: Literature