Groopman et al 2019 - Genes with diagnostic variants

Gene: SMC1A

Red List (low evidence)

SMC1A (structural maintenance of chromosomes 1A)
EnsemblGeneIds (GRCh38): ENSG00000072501
EnsemblGeneIds (GRCh37): ENSG00000072501
OMIM: 300040, Gene2Phenotype
SMC1A is in 16 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

From Groopman et al 2019 Table S7. Gene symbol: SMC1A; Inheritance: X-linked; Clinical diagnosis: Congenital or cystic renal disease; Genetic diagnosis: Cornelia de Lange syndrome 2; OMIM phenotype MIM No.: 300590; Number of cases: 1
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.
Panel Version: 0.4

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 Red
  • Expert review red
  • Literature
Phenotypes
  • Congenital or cystic renal disease
  • MIM 300590
  • Cornelia de Lange syndrome 2
OMIM
300040
Clinvar variants
Variants in SMC1A
Penetrance
None
Panels with this gene

History Filter Activity

2 Jul 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source Expert Review Red was added to SMC1A.

2 Jul 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: SMC1A was added gene: SMC1A was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: SMC1A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: SMC1A were set to Congenital or cystic renal disease; MIM 300590; Cornelia de Lange syndrome 2