Gene Symbol:
POMT2
HGNC:19743
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
14q24.3
Filters:

Definitive classifications

myopathy caused by variation in POMT2
AR
11/02/2021
Evaluated
10/18/2023
Submitted
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Submitted as: OMIM:613150
AR
07/22/2015
Evaluated
09/11/2023
Submitted

Strong classifications

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Submitted as: OMIM:613150
AR
01/29/2021
Evaluated
03/31/2021
Submitted
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Submitted as: OMIM:613150
AR
07/06/2023
Evaluated
11/30/2023
Submitted

Moderate classifications

muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Submitted as: OMIM:613156
AR
08/31/2018
Evaluated
03/02/2021
Submitted

Supportive classifications

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 2N
Submitted as: Orphanet:206559
AR
09/14/2021
Evaluated
09/14/2021
Submitted
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
Submitted as: Orphanet:370968
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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