Cataracts

Gene: MSMO1

Green List (high evidence)

MSMO1 (methylsterol monooxygenase 1)
EnsemblGeneIds (GRCh38): ENSG00000052802
EnsemblGeneIds (GRCh37): ENSG00000052802
OMIM: 607545, Gene2Phenotype
MSMO1 is in 8 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

MSMO1 Inclusion of this as a green gene on this panel is appropriate, based on the review in the Undiagnosed metabolic disorders panel and the views of clinical expert, Dr Arianna Tucci, UCL
Created: 21 Mar 2017, 3:37 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834
OMIM
607545
Clinvar variants
Variants in MSMO1
Penetrance
Complete
Panels with this gene

History Filter Activity

21 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

21 Mar 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

MSMO1 was added to Cataractspanel. Sources: Expert Review

21 Mar 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

MSMO1 was created by sleigh