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Severe Paediatric Disorders

Gene: SMC1A

Green List (high evidence)

SMC1A (structural maintenance of chromosomes 1A)
EnsemblGeneIds (GRCh38): ENSG00000072501
EnsemblGeneIds (GRCh37): ENSG00000072501
OMIM: 300040, Gene2Phenotype
SMC1A is in 17 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: SMC1A; Recommended initial gene rating: Green List (high evidence); Phenotypes: Cornelia de Lange syndrome 2, 300590 (3); Mode of inheritance: X-linked dominant
Created: 20 Feb 2020, 5:25 p.m. | Last Modified: 20 Feb 2020, 5:25 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Cornelia de Lange syndrome 2, OMIM:300590
  • Cornelia de Lange syndrome 2, MONDO:0010370
  • Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044
  • Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771
OMIM
300040
Clinvar variants
Variants in SMC1A
Penetrance
None
Publications
Panels with this gene