Fetal hydrops

Gene: IDUA

Amber List (moderate evidence)

IDUA (iduronidase, alpha-L-)
EnsemblGeneIds (GRCh38): ENSG00000127415
EnsemblGeneIds (GRCh37): ENSG00000127415
OMIM: 252800, Gene2Phenotype
IDUA is in 14 panels

1 review

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Amber because the link between Hurler disease and NIHF isn't confirmed.
Created: 21 Dec 2016, 1:55 p.m.
PMID:27928775 (Sheth et al., 2016) examine the role of lysosomal storage disorders (LSD) in non-immune hydrops fetalis (NIHF) during pregnancy in the Indian population. Two patients were diagnosed with Hurler syndrome.
Created: 21 Dec 2016, 12:23 p.m.
IDUA is on the NGS Non-immune Hydrops Panel for Greenwood Genetic centre: http://www.ggc.org/images/NGS_Hydrops_Panel_Genes_and_Conditions.pdf. However, PMID:23137060 (Whybra et al., 2012) state that cited associations of NIHF with Hurler disease (a lysosomal storage disorder) seem doubtful and there are no cases with a clear description.
Created: 21 Dec 2016, 11:41 a.m.

History Filter Activity

21 Dec 2016, Gel status: 2

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.

21 Dec 2016, Gel status: 2

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Amber List (Moderate Evidence).

21 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

21 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

IDUA was added to Fetal hydropspanel. Sources: Other

21 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

IDUA was created by rfoulger