Groopman et al 2019 - Genes with diagnostic variants
Gene: SMC1A

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

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

Groopman et al 2019 - Genes with diagnostic variants Gene: SMC1A