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  2. Hydrops fetalis
  3. MGAT2
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Hydrops fetalis

Gene: MGAT2

Red List (low evidence)
MGAT2 (mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000168282
EnsemblGeneIds (GRCh37): ENSG00000168282
OMIM: 602616, Gene2Phenotype
MGAT2 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

One report of hydrops as a presenting feature, though a number of CDGs have been reported as presenting with hydrops
Sources: Expert list
Created: 30 Dec 2019, 2:16 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIa , MIM#212066

Publications

Created: 30 Dec 2019, 2:16 a.m.

Panel version: 0.23

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Congenital disorder of glycosylation, type IIa , MIM#212066
OMIM
602616
Clinvar variants
Variants in MGAT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mgat2 has been classified as Red List (Low Evidence).

30 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MGAT2 was added gene: MGAT2 was added to Hydrops fetalis_VCGS. Sources: Expert list Mode of inheritance for gene: MGAT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MGAT2 were set to 31420886 Phenotypes for gene: MGAT2 were set to Congenital disorder of glycosylation, type IIa , MIM#212066 Review for gene: MGAT2 was set to RED