MSMO1

methylsterol monooxygenase 1
OMIM: 607545
PanelMode of inheritanceDetails
4 panels
Green
in Cataracts
R-numbers: R31
Signed-off version 2.76
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834, Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793
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
Sterol-C4-methyl oxidase deficiency (Disorders of sterol biosynthesis), (SC4MOL DEFICIENCY), Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834
R-numbers: R88
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834