1. Panels
  2. Hydrops fetalis
  3. UROS
STRs in panel
Prev Next
Regions in panel
Prev Next

Hydrops fetalis

Gene: UROS

Green List (high evidence)
UROS (uroporphyrinogen III synthase)
EnsemblGeneIds (GRCh38): ENSG00000188690
EnsemblGeneIds (GRCh37): ENSG00000188690
OMIM: 606938, Gene2Phenotype
UROS is in 9 panels

2 reviews

Chern Lim (Victorian Clinical Genetics Services)

Green List (high evidence)

p.(Cys73Arg) missense variant was shown to have markedly decreased enzymatic stability (<1% of wild-type), and individuals homozygous for this variant present with the most severe phenotype including non-immune hydrops fetalis and/or transfusion dependency from birth. (PMID: 30685241)

PMID: 34828434: Homozygous C73R, antenatal presentation of congenital erythropoietic porphyria including multisystemic alterations, parents are heterozygotes.

PMID: 15065102: Two C73R homozygous affected offspring from a single family, prenatal presentation of congenital erythropoietic porphyria.

PMID: 11254675
Proband 1, a male fetus with nonimmune hydrops fetalis, heteroallelic for -70T>C promoter region variant and C73R missense variant.
Created: 20 Jul 2022, 7:03 a.m. | Last Modified: 20 Jul 2022, 7:03 a.m.
Panel Version: 0.282

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 20 Jul 2022, 7:03 a.m.
Last Modified: 20 Jul 2022, 7:03 a.m.
Panel version: 0.282

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Hydrops is a listed feature in reviews of this condition. Two cases reported in PMID 12533808, but only a single variant identified so diagnosis not molecularly confirmed.
Sources: Expert list
Created: 14 Aug 2020, 12:13 a.m. | Last Modified: 21 Aug 2020, 8:15 a.m.
Panel Version: 0.166

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Porphyria, congenital erythropoietic, MIM# 263700

Publications

Created: 14 Aug 2020, 12:13 a.m.
Last Modified: 21 Aug 2020, 8:15 a.m.
Panel version: 0.166

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Porphyria, congenital erythropoietic, MIM# 263700
OMIM
606938
Clinvar variants
Variants in UROS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jul 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UROS were set to 24027798

20 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: uros has been classified as Green List (High Evidence).

14 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: uros has been classified as Red List (Low Evidence).

14 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UROS was added gene: UROS was added to Hydrops fetalis. Sources: Expert list Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UROS were set to 24027798 Phenotypes for gene: UROS were set to Porphyria, congenital erythropoietic, MIM# 263700 Review for gene: UROS was set to RED