Gene Symbol:
FKTN
HGNC:3622
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
9q31.2
Filters:

Definitive classifications

autosomal recessive limb-girdle muscular dystrophy type 2M
Submitted as: OMIM:611588
AR
07/22/2015
Evaluated
11/25/2020
Submitted
muscular dystrophy-dystroglycanopathy
AR
07/01/2020
Evaluated
08/16/2021
Submitted

Strong classifications

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Submitted as: OMIM:253800
AR
01/29/2021
Evaluated
03/31/2021
Submitted

Supportive classifications

familial isolated dilated cardiomyopathy
Submitted as: Orphanet:154
AD
09/14/2021
Evaluated
09/14/2021
Submitted
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Submitted as: Orphanet:272
AR
09/14/2021
Evaluated
09/14/2021
Submitted
muscular dystrophy-dystroglycanopathy, type A
Submitted as: Orphanet:899
AR
09/14/2021
Evaluated
09/14/2021
Submitted
muscle-eye-brain disease
Submitted as: Orphanet:588
AR
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal recessive limb-girdle muscular dystrophy type 2M
Submitted as: Orphanet:206554
AR
09/14/2021
Evaluated
09/14/2021
Submitted
congenital muscular dystrophy without intellectual disability
Submitted as: Orphanet:370980
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

dilated cardiomyopathy 1X
Submitted as: OMIM:611615
AR
10/20/2020
Evaluated
03/02/2021
Submitted

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