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  3. MSMO1
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Miscellaneous Metabolic Disorders

Gene: MSMO1

Green List (high evidence)
MSMO1 (methylsterol monooxygenase 1)
EnsemblGeneIds (GRCh38): ENSG00000052802
EnsemblGeneIds (GRCh37): ENSG00000052802
OMIM: 607545, Gene2Phenotype
MSMO1 is in 7 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

5 cases in 4 unrelated families reported, with supporting biochemical assays demonstrating an inborn error of sterol metabolism.
Sources: NHS GMS
Created: 7 Feb 2021, 1:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834; Disorders of the metabolism of sterols

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Feb 2021, 1:36 a.m.

Panel version: 0.251

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834
  • Disorders of the metabolism of sterols
  • MONDO:0014793
OMIM
607545
Clinvar variants
Variants in MSMO1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MSMO1 were changed from Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834; Disorders of the metabolism of sterols to Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834; Disorders of the metabolism of sterols; MONDO:0014793

7 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: msmo1 has been classified as Green List (High Evidence).

7 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: msmo1 has been classified as Green List (High Evidence).

7 Feb 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: MSMO1 was added gene: MSMO1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: MSMO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MSMO1 were set to 27604308; 21285510; 24144731; 33161406; 28673550 Phenotypes for gene: MSMO1 were set to Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834; Disorders of the metabolism of sterols Review for gene: MSMO1 was set to GREEN gene: MSMO1 was marked as current diagnostic