Fetal hydrops

Gene: ALG9

Amber List (moderate evidence)

ALG9 (ALG9, alpha-1,2-mannosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000086848
EnsemblGeneIds (GRCh37): ENSG00000086848
OMIM: 606941, Gene2Phenotype
ALG9 is in 14 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment on list classification: ALG9 added to panel and rated Green by Zornitza Stark. Although there are 3 families from the literature with hydrops, and there is evidence linking congenital disorders of glycosylation to NIHF, the phenotype is inconsistent. In PMID:26453364, 1/10 patients was reported with hydrops: 3 cousins did not have Hydrops reported despite harbouring the same p.E530K variant. PMID:31420886 report 3/15 ALG9 families with NIHF. Therefore rated Amber awaiting clinical review.
Created: 7 May 2020, 1:52 p.m. | Last Modified: 7 May 2020, 1:52 p.m.
Panel Version: 1.20
PMID:26453364. AlSubhi et al., 2016 summarise 6 patients with ALG9-CDG from the literature and report 4 additional patients from a large consanguineous family. Paitient IV:3/patient4 (a male cousin of the index patient) presented with nonimmune hydrops fetalis diagnosed by fetal US at 28 weeks, and a novel homozygous variant p.E350K in the ALG9 gene.
Created: 7 May 2020, 1:49 p.m. | Last Modified: 7 May 2020, 1:49 p.m.
Panel Version: 1.19
PMID:31420886 Makhamreh et al., 2020 provide a literature review of Nonimmune hydrops fetalis (NIHF) and congenital disorders of glycosylation. 3/15 families had NIHF and ALG9 variants (20%).
Created: 7 May 2020, 1:49 p.m. | Last Modified: 7 May 2020, 1:49 p.m.
Panel Version: 1.19

Zornitza Stark (Australian Genomics)

Green List (high evidence)

CDGs can present prenatally with hydrops fetalis; please note three patients reported in recent literature review.
Sources: Expert list
Created: 30 Dec 2019, 3:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type II, MIM#608776

Publications

History Filter Activity

7 May 2020, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: alg9 has been classified as Amber List (Moderate Evidence).

30 Dec 2019, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: ALG9 was added gene: ALG9 was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG9 were set to 26453364; 31420886 Phenotypes for gene: ALG9 were set to Congenital disorder of glycosylation, type II, MIM#608776 Review for gene: ALG9 was set to GREEN