This Panel is marked as Internal
Undiagnosed neurocutaneous disorders
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
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Literature
- Phenotypes
-
- Microcephaly, congenital cataract, and psoriasiformdermatitis, 616834
- OMIM
- 607545
- Clinvar variants
- Variants in MSMO1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Fetal anomalies
- Severe microcephaly
- Undiagnosed metabolic disorders
- Bilateral congenital or childhood onset cataracts
- Generalised pustular psoriasis
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Ichthyosis and erythrokeratoderma
History Filter Activity
11 May 2017, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)MSMO1 was added to Undiagnosed neurocutaneous disorderspanel. Sources: Literature
11 May 2017, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)MSMO1 was created by rfoulger