Fetal hydrops
Gene: ALG1EnsemblGeneIds (GRCh38): ENSG00000033011
EnsemblGeneIds (GRCh37): ENSG00000033011
OMIM: 605907, Gene2Phenotype
ALG1 is in 11 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
Comment 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
Zornitza Stark (Australian Genomics)
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)
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Other
- Phenotypes
-
- Congenital disorder of glycosylation, type Ik, 608540
- Hydrops fetalis, nonimmune
- OMIM
- 605907
- Clinvar variants
- Variants in ALG1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Unexplained kidney failure in young people
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Fetal anomalies
- Proteinuric renal disease
- Undiagnosed metabolic disorders
- Fetal hydrops
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: ALG1 were set to 9762608; 14973778
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: alg1 has been classified as Red List (Low Evidence).
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: ALG1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
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.
Added New Source
Rebecca Foulger (Genomics England curator)ALG1 was added to Fetal hydropspanel. Sources: Other
Created
Rebecca Foulger (Genomics England curator)ALG1 was created by rfoulger