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  3. SEC61A1
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Immunological disorders_SuperPanel_PanelAppAustralia

Gene: SEC61A1

Green List (high evidence)
SEC61A1 (Sec61 translocon alpha 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000058262
EnsemblGeneIds (GRCh37): ENSG00000058262
OMIM: 609213, Gene2Phenotype
SEC61A1 is in 7 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Severe recurrent respiratory tract infections
  • Hypogammaglobulinaemia
  • Hyperuricemic nephropathy, familial juvenile, 4, MIM#617056
OMIM
609213
Clinvar variants
Variants in SEC61A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Apr 2020, Gel status: 3

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

Rebecca Foulger (Genomics England curator)

gene: SEC61A1 was added gene: SEC61A1 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Expert Review Green,Expert list Mode of inheritance for gene: SEC61A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SEC61A1 were set to 28782633; 27392076 Phenotypes for gene: SEC61A1 were set to Severe recurrent respiratory tract infections; Hypogammaglobulinaemia; Hyperuricemic nephropathy, familial juvenile, 4, MIM#617056