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Intellectual disability

Gene: MSMO1

Green List (high evidence)

MSMO1 (methylsterol monooxygenase 1)
EnsemblGeneIds (GRCh38): ENSG00000052802
EnsemblGeneIds (GRCh37): ENSG00000052802
OMIM: 607545, Gene2Phenotype
MSMO1 is in 8 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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, UCL
Created: 21 Mar 2017, 3:35 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, 616834
OMIM
607545
Clinvar variants
Variants in MSMO1
Penetrance
Complete
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

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: 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 Intellectual disabilitypanel. Sources: Expert Review

21 Mar 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

MSMO1 was created by sleigh