Gene Symbol:
POMGNT2
HGNC:25902
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
3p22.1
Filters:

Definitive classifications

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
Submitted as: OMIM:614830
AR
07/22/2015
Evaluated
09/11/2023
Submitted
myopathy caused by variation in POMGNT2
AR
06/21/2023
Evaluated
04/21/2024
Submitted

Strong classifications

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
Submitted as: OMIM:614830
AR
01/29/2021
Evaluated
03/31/2021
Submitted
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
Submitted as: OMIM:614830
AR
08/04/2021
Evaluated
11/30/2023
Submitted

Moderate classifications

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
Submitted as: OMIM:614830
AR
08/31/2018
Evaluated
12/24/2020
Submitted

Supportive classifications

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

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