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  3. MSMO1
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Ichthyosis

Gene: MSMO1

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Possible phenotypic overlap but not clear.
Created: 17 Aug 2020, 9:15 a.m. | Last Modified: 17 Aug 2020, 9:15 a.m.
Panel Version: 0.92
Created: 17 Aug 2020, 9:15 a.m.
Last Modified: 17 Aug 2020, 9:15 a.m.
Panel version: 0.92

Paul De Fazio (Victorian Clinical Genetics Services)

I don't know

Ichthyosiform erythroderma (PMID: 21285510)/psoriasiform dermatitis seems to be a feature of the syndrome associated with this gene. 3 unrelated families described with biallelic variants in this gene but only 2 of them had a marked skin phenotype (the third had 'dry skin').

Not sure if psoriasiform dermatitis fits on this panel. The index patient was originally described in PMID: 21285510 to have ichthyosiform erythroderma but in a followup paper she was described with psoriasiform dermatitis.

There also doesn't appear to be anything published more recently.
Sources: Literature
Created: 17 Aug 2020, 4:16 a.m. | Last Modified: 17 Aug 2020, 4:17 a.m.
Panel Version: 0.90

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly, congenital cataract, and psoriasiform dermatitis (MIM#616834)

Publications

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

Created: 17 Aug 2020, 4:16 a.m.
Last Modified: 17 Aug 2020, 4:17 a.m.
Panel version: 0.90

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Microcephaly, congenital cataract, and psoriasiform dermatitis (MIM#616834)
  • MONDO:0014793
OMIM
607545
Clinvar variants
Variants in MSMO1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Mar 2021, Gel status: 2

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) to Microcephaly, congenital cataract, and psoriasiform dermatitis (MIM#616834); MONDO:0014793

17 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: msmo1 has been classified as Amber List (Moderate Evidence).

17 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: msmo1 has been classified as Amber List (Moderate Evidence).

17 Aug 2020, Gel status: 0

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

Paul De Fazio (Victorian Clinical Genetics Services)

gene: MSMO1 was added gene: MSMO1 was added to Ichthyosis. Sources: Literature Mode of inheritance for gene: MSMO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MSMO1 were set to 24144731; 21285510 Phenotypes for gene: MSMO1 were set to Microcephaly, congenital cataract, and psoriasiform dermatitis (MIM#616834) Review for gene: MSMO1 was set to AMBER gene: MSMO1 was marked as current diagnostic