Fetal hydrops
Gene: ALG1Comment on list classification: Only a single individual reported to date with prenatal hydrops and so will maintain the current Red rating on this panel. However, ALG1 is already Green on the GMS Fetal anomalies panel so cases should still be picked up via that route.Created: 25 Aug 2021, 3:55 p.m. | Last Modified: 25 Aug 2021, 3:55 p.m.
Panel Version: 1.31
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
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
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.
Publications for gene: ALG1 were set to 9762608; 14973778
Gene: alg1 has been classified as Red List (Low Evidence).
Mode of inheritance for gene: ALG1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
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.
ALG1 was added to Fetal hydropspanel. Sources: Other
ALG1 was created by rfoulger