Primary lymphoedema

Gene: ALG8

Red List (low evidence)

ALG8 (ALG8, alpha-1,3-glucosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000159063
EnsemblGeneIds (GRCh37): ENSG00000159063
OMIM: 608103, Gene2Phenotype
ALG8 is in 13 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Associated with edematoascitic syndrome related to severe hypoalbuminemia resulting from protein-losing enteropathy.
Created: 24 Jul 2019, 10:46 a.m. | Last Modified: 24 Jul 2019, 10:46 a.m.
Panel Version: 1.88

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Ih 608104

Publications

History Filter Activity

24 Jul 2019, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ALG8 were set to

23 Jul 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Sarah Leigh (Genomics England Curator)

gene: ALG8 was added gene: ALG8 was added to Primary lymphoedema. Sources: Expert list Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal