Bilateral congenital or childhood onset cataracts
Gene: MSMO1
MSMO1 (methylsterol monooxygenase 1)
EnsemblGeneIds (GRCh38): ENSG00000052802
EnsemblGeneIds (GRCh37): ENSG00000052802
OMIM: 607545, Gene2Phenotype
MSMO1 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000052802
EnsemblGeneIds (GRCh37): ENSG00000052802
OMIM: 607545, Gene2Phenotype
MSMO1 is in 9 panels
1 review
Sarah Leigh (Genomics England Curator)
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, UCLCreated: 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, OMIM:616834
- Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793
- OMIM
- 607545
- Clinvar variants
- Variants in MSMO1
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Severe microcephaly
- Undiagnosed metabolic disorders
- Bilateral congenital or childhood onset cataracts
- Generalised pustular psoriasis
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Ichthyosis and erythrokeratoderma
History Filter Activity
29 Jan 2021, Gel status: 3
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
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