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  2. Likely inborn error of metabolism
  3. POMGNT2
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Likely inborn error of metabolism

Gene: POMGNT2

Green List (high evidence)
POMGNT2 (protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-))
EnsemblGeneIds (GRCh38): ENSG00000144647
EnsemblGeneIds (GRCh37): ENSG00000144647
OMIM: 614828, Gene2Phenotype
POMGNT2 is in 17 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8, OMIM:614830
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8, MONDO:0013904
  • Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, OMIM:618135
  • muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8, MONDO:0029135
OMIM
614828
Clinvar variants
Variants in POMGNT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Jun 2026, Gel status: 3

Set Phenotypes

Ida Ertmanska (Genomics England Curator)

Phenotypes for gene: POMGNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8, OMIM:614830; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8, MONDO:0013904; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, OMIM:618135; muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8, MONDO:0029135

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 for gene: POMGNT2

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: POMGNT2 was added gene: POMGNT2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMGNT2 were set to 27066570 Phenotypes for gene: POMGNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8