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  2. Congenital Disorders of Glycosylation
  3. POMGNT2
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Congenital Disorders of Glycosylation

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 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 20 Dec 2020, 4:05 a.m. | Last Modified: 20 Dec 2020, 4:05 a.m.
Panel Version: 0.301

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 618135

Created: 20 Dec 2020, 4:05 a.m.
Last Modified: 20 Dec 2020, 4:05 a.m.
Panel version: 0.301

Details

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

History Filter Activity

20 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pomgnt2 has been classified as Green List (High Evidence).

20 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

20 Dec 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: POMGNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: POMGNT2 was added gene: POMGNT2 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POMGNT2 was set to Unknown