Fetal hydrops
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
2 reviews
Arina Puzriakova (Genomics England Curator)
Comment on list classification: New gene added by Zornitza Stark. There are sufficient unrelated cases with prenatal hydrops and variants in this gene to rate as Green on this panel. ALG8 is also already Green on the GMS Fetal anomalies (R21) panel.Created: 25 Aug 2021, 4 p.m. | Last Modified: 25 Aug 2021, 4 p.m.
Panel Version: 1.33
Zornitza Stark (Australian Genomics)
CDGs can present prenatally with non-immune hydrops fetalis. Please note these two reviews: one of ALG8-CDG, reporting hydrops in 3/15 patients; and the other reporting hydrops in a range of CDGs.
Sources: Expert listCreated: 30 Dec 2019, 3:40 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ih, MIM#608104
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Congenital disorder of glycosylation, type Ih, MIM#608104
- OMIM
- 608103
- Clinvar variants
- Variants in ALG8
- Penetrance
- None
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Congenital disorders of glycosylation
- Intellectual disability
- Early onset or syndromic epilepsy
- Ductal plate malformation
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Primary lymphoedema
- Cystic kidney disease
- Polycystic liver disease
- Fetal hydrops
- Fetal anomalies
History Filter Activity
25 Aug 2021, Gel status: 3
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: alg8 has been classified as Green List (High Evidence).
30 Dec 2019, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: ALG8 was added gene: ALG8 was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG8 were set to 26066342; 31420886 Phenotypes for gene: ALG8 were set to Congenital disorder of glycosylation, type Ih, MIM#608104 Review for gene: ALG8 was set to GREEN