Congenital muscular dystrophy

Gene: FKTN

Green List (high evidence)

FKTN (fukutin)
EnsemblGeneIds (GRCh38): ENSG00000106692
EnsemblGeneIds (GRCh37): ENSG00000106692
OMIM: 607440, Gene2Phenotype
FKTN is in 25 panels

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.
Created: 29 Apr 2019, 3:37 p.m.

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fukuyama congenital muscular dystrophy; Fukuyama Congenital Muscular Dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type

Publications

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

Ellen McDonagh (Genomics England Curator)

Retrotransposons and large insertions identified and reported with association with diseases, as well as SNVs or small indels.
Created: 16 Jan 2017, 4:53 p.m.
Comment when marking as ready: Expert review green, and confirmed DD gene for relevant diseases. Multiple cases reported.
Created: 16 Jan 2017, 4:50 p.m.

Emma Clement (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fukuyama congenital muscular dystrophy; Fukuyama Congenital Muscular Dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type

History Filter Activity

29 Apr 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene FKTN were changed from to 12601708; 14627679

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to FKTN.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to FKTN. Rating Changed from Green List (high evidence) to Green List (high evidence)

27 Jan 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27.01.2017 Panel revised after expert review and internal review with further curation.

16 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

FKTN was added to Congenital muscular dystrophypanel. Source:

23 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FKTN was changed to BIALLELIC, autosomal or pseudoautosomal

23 Jul 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

FKTN was added to Congenital muscular dystrophypanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen

23 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FKTN was changed to BIALLELIC, autosomal or pseudoautosomal

23 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

FKTN was added to Congenital muscular dystrophypanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen

23 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FKTN was changed to BIALLELIC, autosomal or pseudoautosomal

23 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

FKTN was added to Congenital muscular dystrophypanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen

23 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FKTN was added to Congenital muscular dystrophypanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen