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  2. Generalised pustular psoriasis
  3. MSMO1
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Generalised pustular psoriasis

Gene: MSMO1

Red List (low evidence)
MSMO1 (methylsterol monooxygenase 1)
EnsemblGeneIds (GRCh38): ENSG00000052802
EnsemblGeneIds (GRCh37): ENSG00000052802
OMIM: 607545, Gene2Phenotype
MSMO1 is in 9 panels

3 reviews

catherine smith (Guys and St Thomas' NHS Foundation Trust)

I don't know

Created: 5 Nov 2017, 2:40 a.m.

Panel version: 0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least three variants reported. Phenotype does not appear tp be relevant to this panel
Created: 4 Nov 2016, 3:01 p.m.
Created: 4 Nov 2016, 3:01 p.m.

Panel version: 0.39

Francesca Capon (King's College London)

I don't know

Created: 15 Dec 2015, 9:31 p.m.

Panel version: 0.18

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834
  • Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793
OMIM
607545
Clinvar variants
Variants in MSMO1
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Jan 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MSMO1 were changed from Microcephaly, congenital cataract, and psoriasiform dermatitis 616834 to Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834; Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793

24 Nov 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 24/11/2016

4 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

4 Nov 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for MSMO1 was changed to BIALLELIC, autosomal or pseudoautosomal

4 Nov 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for MSMO1 were set to Microcephaly, congenital cataract, and psoriasiform dermatitis 616834

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MSMO1 was added to Generalised pustular psoriasispanel. Sources: Emory Genetics Laboratory