Severe microcephaly
Gene: MSMO1EnsemblGeneIds (GRCh38): ENSG00000052802
EnsemblGeneIds (GRCh37): ENSG00000052802
OMIM: 607545, Gene2Phenotype
MSMO1 is in 9 panels
3 reviews
Louise Daugherty (Genomics England Curator)
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 GreenCreated: 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 microcephalyCreated: 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, OMIM:616834
- Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793
- 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
-
- Undiagnosed metabolic disorders
- Ichthyosis and erythrokeratoderma
- Childhood onset dystonia, chorea or related movement disorder
- Severe microcephaly
- Intellectual disability
- Fetal anomalies
- Generalised pustular psoriasis
- Likely inborn error of metabolism
- Bilateral congenital or childhood onset cataracts
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: MSMO1 were changed from Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834 to Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834; Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to MSMO1.
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Red List (Low Evidence).
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.
Added New Source
Rebecca Foulger (Genomics England curator)MSMO1 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other
Created
Rebecca Foulger (Genomics England curator)MSMO1 was created by rfoulger