Fetal hydrops

Gene: ALG1

Red List (low evidence)

ALG1 (ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000033011
EnsemblGeneIds (GRCh37): ENSG00000033011
OMIM: 605907, Gene2Phenotype
ALG1 is in 13 panels

3 reviews

Zornitza Stark (Australian Genomics)

I don't know

CDGs can present with nonimmune hydrops fetalis, please note this recent systematic literature review. Only one report of ALG1 and hydrops identified.
Created: 30 Dec 2019, 3:36 a.m. | Last Modified: 30 Dec 2019, 3:36 a.m.
Panel Version: 1.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Ik, MIM#608540

Publications

Richard Choy (Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong)

Red List (low evidence)

ALG1-CDG patients had been reported to be a lethal form with severe multiorgan involvement, generalized edema, epilepsy, coagulation abnormalities, and death in the first months of life (PMID:14973778 and PMID:14973782)
Created: 20 Dec 2016, 5:03 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
prenatal growth retardation; fetal hydrops

Publications

Rebecca Foulger (Genomics England curator)

In 1998, CDG‐I was added to the extensive list of causes of non‐immune hydrops with the case report on two sibs with hydrops fetalis who were diagnosed with CDG‐Ik (PMID:9762608). PMID:14973778 (Schwarz et a., 2004) identified a homozygous mutation in ALG1 resulting in a S258L substitution. The patient is the second child reported in the earlier paper PMID:9762608 (De Koning et al., 1998).
Created: 16 Dec 2016, 12:26 p.m.

History Filter Activity

21 Dec 2016, Gel status: 0

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

21 December 2016. External reviews were assessed, and panel was revised according to expert review, internal discussion and additional curation. Following internal discussion, all genes from the V1.14 'RASopathies' panel were added as green EXCLUDING NF1 and SPRED1- a cautious approach was taken because Fetal hydrops is a fetal panel. All relevant genes from the 'Mucopolysaccharideosis, Gaucher, Fabry' V1.0 panel (lysosomal storage disorders) were also added to the Fetal hydrops panel as green together with genes from the literature where there is a reasonable link between the corresponding lysosomal storage disorder (LSD) and Fetal hydrops. All PEX genes from the V1.2 'Peroxisomal disorders' panel were added as green based on a link between peroxisomal biogenesis disorders and Fetal hydrops.

16 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

ALG1 was added to Fetal hydropspanel. Sources: Other

16 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

ALG1 was created by rfoulger