Gene Symbol:
POMGNT1
HGNC:19139
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
1p34.1
Filters:

Definitive classifications

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Submitted as: OMIM:253280
AR
07/22/2015
Evaluated
09/11/2023
Submitted
autosomal recessive limb-girdle muscular dystrophy type 2O
Submitted as: OMIM:613157
AR
07/22/2015
Evaluated
09/11/2023
Submitted
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Submitted as: OMIM:613151
AR
10/04/2019
Evaluated
09/11/2023
Submitted
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Submitted as: OMIM:253280
AR
08/31/2018
Evaluated
12/24/2020
Submitted

Strong classifications

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Submitted as: OMIM:253280
AR
01/13/2022
Evaluated
11/30/2023
Submitted
myopathy caused by variation in POMGNT1
AR
06/21/2023
Evaluated
10/18/2023
Submitted
retinitis pigmentosa 76
Submitted as: OMIM:617123
AR
08/26/2019
Evaluated
11/30/2023
Submitted
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Submitted as: OMIM:253280
AR
01/29/2021
Evaluated
03/31/2021
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 2O
Submitted as: Orphanet:206564
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
retinitis pigmentosa
Submitted as: Orphanet:791
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

retinitis pigmentosa 76
Submitted as: OMIM:617123
AR
08/31/2018
Evaluated
12/24/2020
Submitted
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Submitted as: OMIM:613151
AR
08/31/2018
Evaluated
12/24/2020
Submitted
autosomal recessive limb-girdle muscular dystrophy type 2O
Submitted as: OMIM:613157
AR
08/31/2018
Evaluated
12/24/2020
Submitted

The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.