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| Fetal hydrops v1.20 | ALG9 | Rebecca Foulger Classified gene: ALG9 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.20 | ALG9 | Rebecca Foulger Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.20 | ALG9 | Rebecca Foulger Gene: alg9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.19 | ALG9 | Rebecca Foulger commented on gene: ALG9: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.19 | ALG9 | Rebecca Foulger commented on gene: ALG9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.16 | ALG9 |
Zornitza Stark 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 Added comment: CDGs can present prenatally with hydrops fetalis; please note three patients reported in recent literature review. Sources: Expert list |
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