UROS

uroporphyrinogen III synthase
OMIM: 606938
PanelMode of inheritanceDetails
5 panels
R-numbers: R237
Signed-off version 1.3
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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CONGENITAL ERYTHROPOIETIC PORPHYRIA 263700
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CONGENITAL ERYTHROPOIETIC PORPHYRIA
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis), Porphyria, congenital erythropoietic 263700
R-numbers: R168
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Porphyria, congenital erythropoietic 263700, Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis)