Fetal hydrops

Gene: UROS

Red List (low evidence)

UROS (uroporphyrinogen III synthase)
EnsemblGeneIds (GRCh38): ENSG00000188690
EnsemblGeneIds (GRCh37): ENSG00000188690
OMIM: 606938, Gene2Phenotype
UROS is in 11 panels

1 review

Rebecca Foulger (Genomics England curator)

PMID:12533808 (Pannier et al., 2003) present two cases of fetuses with severe nonimmune hydrops fetalis and congenital erythropoietic porphyria (CEP/Günther's disease). Molecular screening of the UROS (CEP) gene detected heterozygous C73R mutation in both fetuses, the other parental mutation being as yet unknown.
Created: 21 Dec 2016, 11:56 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Porphyria, congenital erythropoietic, 263700
  • Congenital erythropoietic porphyria
  • Gunther's disease
OMIM
606938
Clinvar variants
Variants in UROS
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Dec 2016, Gel status: 0

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: 0

Created

Rebecca Foulger (Genomics England curator)

UROS was created by rfoulger

21 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

UROS was added to Fetal hydropspanel. Sources: Literature