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Mendeliome

Gene: B3GNT2

Amber List (moderate evidence)

B3GNT2 (UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000170340
EnsemblGeneIds (GRCh37): ENSG00000170340
OMIM: 605581, Gene2Phenotype
B3GNT2 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Gene previously known as B3GNT1. Two families reported.
Created: 7 Aug 2020, 10:51 a.m. | Last Modified: 7 Aug 2020, 10:51 a.m.
Panel Version: 0.3714
No evidence currently for Mendelian disease association.
Created: 20 Nov 2019, 3:21 a.m. | Last Modified: 20 Nov 2019, 3:21 a.m.
Panel Version: 0.27

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy, MONDO:0018276, B3GNT2-related

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy, MONDO:0018276, B3GNT2-related
OMIM
605581
Clinvar variants
Variants in B3GNT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Sep 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: B3GNT2 were changed from Muscular dystrophy-dystroglycanopathy to Muscular dystrophy-dystroglycanopathy, MONDO:0018276, B3GNT2-related

7 Aug 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: B3GNT2 were changed from to Muscular dystrophy-dystroglycanopathy

7 Aug 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: B3GNT2 were set to

7 Aug 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: B3GNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

7 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: b3gnt2 has been classified as Amber List (Moderate Evidence).

20 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: b3gnt2 has been classified as Red List (Low Evidence).

20 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: b3gnt2 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: B3GNT2 was added gene: B3GNT2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: B3GNT2 was set to Unknown