IUGR and IGF abnormalities

Gene: SMC1A

Green List (high evidence)

SMC1A (structural maintenance of chromosomes 1A)
EnsemblGeneIds (GRCh38): ENSG00000072501
EnsemblGeneIds (GRCh37): ENSG00000072501
OMIM: 300040, Gene2Phenotype
SMC1A is in 12 panels

2 reviews

Philip Murray (University of Manchester)

Green List (high evidence)

Peter Clayton (University of Manchester)

Green List (high evidence)

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
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Cornelia De Lange
OMIM
300040
Clinvar variants
Variants in SMC1A
Penetrance
Complete
Panels with this gene

History Filter Activity

25 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

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

25 Apr 2016, Gel status: 4

Set Phenotypes

emma baple (Genomics England Curator)

Phenotypes for SMC1A were set to Cornelia De Lange

25 Apr 2016, Gel status: 4

Set Mode of Inheritance

emma baple (Genomics England Curator)

Mode of inheritance for SMC1A was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

25 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

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

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

SMC1A was added to IUGR and IGF abnormalitiespanel. Sources: Emory Genetics Laboratory