Fetal hydrops

Gene: NEU1

Green List (high evidence)

NEU1 (neuraminidase 1)
EnsemblGeneIds (GRCh38): ENSG00000204386
EnsemblGeneIds (GRCh37): ENSG00000204386
OMIM: 608272, Gene2Phenotype
NEU1 is in 14 panels

3 reviews

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Rated as green, and mode of inheritance complete.
Created: 19 Dec 2016, 1:46 p.m.
Comment on list classification: Updated rating from Red to Green: Gene added to panel by reviewer. Two green reviews (including one by submitter). Literature shows at least 3 cases of NEU1 variants from different populations presenting with Fetal hydrops. OMIM records >3 cases of NEU1 mutations in Sialidosis; 'Fetal hydrops' is listed as a clinical phenotype for Sialidosis (OMIM:256550). NEU1 is a confirmed DD gene for SIALIDOSIS.
Created: 15 Dec 2016, 4:27 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM and G2P.
Created: 15 Dec 2016, 4:23 p.m.
PMID:11702224 report a Turkish family with parental consanguinity and at risk for sialidosis type II. The proband was a premature male infant that presented with symptoms including hydrops. A previous pregnancy of the mother terminated in a spontaneous abortion in the 13th week of gestation. A successive pregnancy showed hydrops fetalis. DNA analysis of the family showed that both the proband and the third sibling had a novel homozygous nonsense point mutation at nucleotide 87 in exon 1 of the NEU1 gene causing a termination codon (W29X). DNA sequencing identified the parents as heterozygous carriers.
Created: 15 Dec 2016, 4:21 p.m.
PMID:23433491 (Lee et al., 2014) describe a Korean neonate with hydrops fetalis, and a diagnosis of sialidosis type 2. Pathogenic NEU1 mutations were detected.
Created: 15 Dec 2016, 4:18 p.m.
PMID:15908988 (Loren et al., 2005) report a case of sialidosis presenting as severe nonimmune hydrops fetalis. The case patient was the first pregnancy for healthy Caucasian parents. Sequence analysis of genomic DNA demonstrated one mutation in each allele of NEUR: a nonsense G45GA mutation, which introduces a premature stop codon [W15X] in the signal peptide, and a splite site mutation, G1022A mutation predicts insertion of 32 additional amino acids that would likely result in a misfolded peptide. The parents were each found to be heterozygous for one of the mutations.
Created: 15 Dec 2016, 4:01 p.m.

Liona Poon (The Chinese University of Hong Kong)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sialidosis; fetal hydrops

Publications

Diana Wellesley (nhs)

Green List (high evidence)

Personal experience of foetuses with ascites / hydrops in this condition
Created: 22 Nov 2016, 10:06 a.m.
Experience of hydropic foetuses or with severe ascites.
Created: 14 Nov 2016, 5:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sialidosis

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Sialidosis, type I, 256550
  • Sialidosis, type II, 256550
  • Sialidosis
  • fetal hydrops
  • Hydrops fetalis (type II, congenital)
OMIM
608272
Clinvar variants
Variants in NEU1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Dec 2016, Gel status: 4

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.

19 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).

15 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).

15 Dec 2016, Gel status: 0

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for NEU1 was changed to BIALLELIC, autosomal or pseudoautosomal

15 Dec 2016, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for NEU1 were set to Sialidosis, type I, 256550; Sialidosis, type II, 256550; Sialidosis; fetal hydrops; Hydrops fetalis (type II, congenital)

15 Dec 2016, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for NEU1 were set to 15908988; 23433491; 11702224

14 Nov 2016, Gel status: 0

Added New Source

Diana Wellesley (nhs)

NEU1 was added to Fetal hydropspanel. Sources: Literature,Other

14 Nov 2016, Gel status: 0

Created

Diana Wellesley (nhs)

NEU1 was created by dgw