Genomics England
GMS Panels
Panels
Genes and Entities

UROS

uroporphyrinogen III synthase
OMIM: 606938
PanelMode of inheritanceDetails
5 panels
Green
in Cutaneous photosensitivity with a likely genetic cause
R-numbers: R237
Signed-off version 3.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis), Porphyria, congenital erythropoietic 263700
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CONGENITAL ERYTHROPOIETIC PORPHYRIA 263700
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CONGENITAL ERYTHROPOIETIC PORPHYRIA
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 9.29
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis), Porphyria, congenital erythropoietic 263700
Green
in Non-acute porphyrias
R-numbers: R168
Signed-off version 2.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Porphyria, congenital erythropoietic OMIM:263700, cutaneous porphyria MONDO:0009902