Severe microcephaly

Gene: MSMO1

Green List (high evidence)

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

3 reviews

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62

Sarah Leigh (Genomics England Curator)

Comment on list classification: Promotion of this gene from red to green on this panel is appropriate, based on the review in the Undiagnosed metabolic disorders panel, including additional publication (pmid 24144731). Variants reported in at least 3 unrelated cases, all with microcephaly
Created: 21 Mar 2017, 12:34 p.m.

Rebecca Foulger (Genomics England curator)

Comment on list classification: Only 2 reported cases, and unclear if microcephaly was from birth or acquired and how severe. Not a confirmed DD gene (Gene2Phenotype). Therefore kept rating as red.
Created: 19 Jan 2017, 9:29 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Other
Phenotypes
  • Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834
OMIM
607545
Clinvar variants
Variants in MSMO1
Penetrance
Complete
Publications
  • 21285510: In a 15 year old girl with MCCPD (OMIM:616834), He et al., identified compound heterozygosity for 2 mutations in MSMO1 (c.519T-A, H173Q and c.731A-G, Y244C). In a 5-year-old Hispanic girl with MCCPD (OMIM:616834), He et al., identified homozygosity for a c.343G-A transition (G115R). Her parents were heterozygous for the mutation.
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MSMO1.

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).

2 Mar 2017, Gel status: 1

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.

19 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Red List (Low Evidence).

19 Jan 2017, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for MSMO1 were set to 21285510: In a 15 year old girl with MCCPD (OMIM:616834), He et al., identified compound heterozygosity for 2 mutations in MSMO1 (c.519T-A, H173Q and c.731A-G, Y244C). In a 5-year-old Hispanic girl with MCCPD (OMIM:616834), He et al., identified homozygosity for a c.343G-A transition (G115R). Her parents were heterozygous for the mutation.

19 Jan 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

MSMO1 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other

19 Jan 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

MSMO1 was created by rfoulger