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Intellectual disability syndromic and non-syndromic

Gene: FKTN

Green List (high evidence)

FKTN (fukutin)
EnsemblGeneIds (GRCh38): ENSG00000106692
EnsemblGeneIds (GRCh37): ENSG00000106692
OMIM: 607440, Gene2Phenotype
FKTN is in 21 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

ID is a feature of the condition
Created: 27 Sep 2024, 9:21 a.m. | Last Modified: 27 Sep 2024, 9:21 a.m.
Panel Version: 0.6271

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy caused by variation in FKTN MONDO:0700067

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

27 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fktn has been classified as Green List (High Evidence).

27 Sep 2024, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: FKTN were changed from to Myopathy caused by variation in FKTN MONDO:0700067

27 Sep 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: FKTN were set to

27 Sep 2024, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: FKTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

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 Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FKTN was set to Unknown