Primary lymphoedema
Gene: ALG8
ALG8 (ALG8, alpha-1,3-glucosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000159063
EnsemblGeneIds (GRCh37): ENSG00000159063
OMIM: 608103, Gene2Phenotype
ALG8 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000159063
EnsemblGeneIds (GRCh37): ENSG00000159063
OMIM: 608103, Gene2Phenotype
ALG8 is in 13 panels
1 review
Sarah Leigh (Genomics England Curator)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- OMIM
- 608103
- Clinvar variants
- Variants in ALG8
- Penetrance
- None
- Publications
- Panels with this gene
-
- Early onset or syndromic epilepsy
- Fetal anomalies
- Undiagnosed metabolic disorders
- Polycystic liver disease
- Fetal hydrops
- Primary lymphoedema
- Intellectual disability
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Ductal plate malformation
- DDG2P
- Cystic kidney disease
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