Severe microcephaly

Gene: SMC3

Green List (high evidence)

SMC3 (structural maintenance of chromosomes 3)
EnsemblGeneIds (GRCh38): ENSG00000108055
EnsemblGeneIds (GRCh37): ENSG00000108055
OMIM: 606062, Gene2Phenotype
SMC3 is in 13 panels

1 review

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Green: Possible DD-G2P gene for 'Conelia de Lange syndrome' (CdLS) and >3 cases of SMC3 variants causing (mild/moderate) CdLS in OMIM.
2 Mar 2017, 12:43 p.m.
ALthough the Cornelia de Lange syndromes (CDLS) are not part of the primary dwarfism spectrum and typically present with additional features other than microcephaly, they are included in this panel after clinical discussion, since a small proportion of cases may overlap with the microcephaly primary dwarfism spectrum.
2 Mar 2017, 12:35 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cornelia de Lange syndrome 3, 610759 (includes microcephaly)
OMIM
606062
Clinvar variants
Variants in SMC3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Mar 2017, Gel status: 4

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.

2 Mar 2017, Gel status: 4

Set publications

Rebecca Foulger (Genomics England curator)

Publications for SMC3 were set to 20301283

2 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

2 Mar 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

SMC3 was created by rfoulger

2 Mar 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

SMC3 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Literature