Research panel - Severe Paediatric Disorders
Gene: SMC1A

SMC1A (structural maintenance of chromosomes 1A)
EnsemblGeneIds (GRCh38): ENSG00000072501
EnsemblGeneIds (GRCh37): ENSG00000072501
OMIM: 300040, Gene2Phenotype
SMC1A is in 15 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

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

30847515

Panels with this gene

History Filter Activity

24 Dec 2020, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SMC1A were changed from Cornelia de Lange syndrome 2, 300590 to 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

20 Feb 2020, Gel status: 3