Gene Symbol:
FKRP
HGNC:17997
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
19q13.32
Filters:

Autosomal recessive limb-girdle muscular dystrophy type 2I classifications

autosomal recessive limb-girdle muscular dystrophy type 2I
Submitted as: OMIM:607155
AR
04/05/2018
Evaluated
03/02/2021
Submitted
autosomal recessive limb-girdle muscular dystrophy type 2I
Submitted as: OMIM:607155
AR
05/19/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more
autosomal recessive limb-girdle muscular dystrophy type 2I
Submitted as: Orphanet:34515
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Congenital muscular dystrophy with cerebellar involvement classifications

congenital muscular dystrophy with cerebellar involvement
Submitted as: Orphanet:370959
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Congenital muscular dystrophy with intellectual disability classifications

congenital muscular dystrophy with intellectual disability
Submitted as: Orphanet:370968
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Congenital muscular dystrophy without intellectual disability classifications

congenital muscular dystrophy without intellectual disability
Submitted as: Orphanet:370980
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Muscle-eye-brain disease classifications

muscle-eye-brain disease
Submitted as: Orphanet:588
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Muscular dystrophy-dystroglycanopathy classifications

muscular dystrophy-dystroglycanopathy
AR
08/11/2020
Evaluated
08/16/2021
Submitted

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 classifications

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Submitted as: OMIM:613153
AR
07/22/2015
Evaluated
11/25/2020
Submitted
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Submitted as: OMIM:613153
AR
01/29/2021
Evaluated
03/31/2021
Submitted
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Submitted as: OMIM:613153
AR
04/05/2018
Evaluated
03/02/2021
Submitted

Muscular dystrophy-dystroglycanopathy type B5 classifications

muscular dystrophy-dystroglycanopathy type B5
AR
08/22/2018
Evaluated
10/13/2020
Submitted

Muscular dystrophy-dystroglycanopathy, type A classifications

muscular dystrophy-dystroglycanopathy, type A
Submitted as: Orphanet:899
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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