SEC61A1

Sec61 translocon alpha 1 subunit
OMIM: 609213
PanelMode of inheritanceDetails
4 panels
R-numbers: R15
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
SEC61A1 deficiency, Severe recurrent respiratory tract infections, Hyperuricemic nephropathy, familial juvenile, 4, 617056, Predominantly Antibody Deficiencies, Hypogammaglobulinaemia, Severe congenital neutropenia
R-numbers: R198
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
hyporeninaemic hypoaldosteronism, autosomal dominant tubulointerstitial kidney disease
R-numbers: R202
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Familial juvenile Hyperuricemic nephropathy-4 , OMIM:617056
R-numbers: R257
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hyperuricemic nephropathy, familial juvenile, 4 617056