Groopman et al 2019 - Genes with diagnostic variants

Gene: SEC61A1

Red List (low evidence)

SEC61A1 (Sec61 translocon alpha 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000058262
EnsemblGeneIds (GRCh37): ENSG00000058262
OMIM: 609213, Gene2Phenotype
SEC61A1 is in 8 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

From Groopman et al 2019 Table S7. Gene symbol: SEC61A1; Inheritance: AD; Clinical diagnosis: Congenital or cystic renal disease; Genetic diagnosis: Hyperuricemic nephropathy familial juvenile 4; OMIM phenotype MIM No.: 617056; 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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert review red
  • Literature
Phenotypes
  • Congenital or cystic renal disease
  • MIM 617056
  • Hyperuricemic nephropathy familial juvenile 4
OMIM
609213
Clinvar variants
Variants in SEC61A1
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 SEC61A1.

2 Jul 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: SEC61A1 was added gene: SEC61A1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: SEC61A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SEC61A1 were set to Congenital or cystic renal disease; MIM 617056; Hyperuricemic nephropathy familial juvenile 4