Gene Symbol:
POMT1
HGNC:9202
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
9q34.13
Filters:

Definitive classifications

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Submitted as: OMIM:236670
AR
07/22/2015
Evaluated
09/11/2023
Submitted
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Submitted as: OMIM:236670
AR
02/09/2018
Evaluated
03/02/2021
Submitted
myopathy caused by variation in POMT1
AR
02/16/2022
Evaluated
04/21/2024
Submitted

Strong classifications

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Submitted as: OMIM:236670
AR
01/29/2021
Evaluated
03/31/2021
Submitted
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Submitted as: OMIM:236670
AR
06/25/2020
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
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Submitted as: OMIM:613155
AR
10/13/2021
Evaluated
11/30/2023
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 2K
Submitted as: Orphanet:86812
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
congenital muscular dystrophy without intellectual disability
Submitted as: Orphanet:370980
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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