Genomics England
GMS Panels
Panels
Genes and Entities

SEC61A1

Sec61 translocon alpha 1 subunit
OMIM: 609213
PanelMode of inheritanceDetails
4 panels
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 5.3
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
Green
in Renal tubulopathies
R-numbers: R198
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
hyporeninaemic hypoaldosteronism, autosomal dominant tubulointerstitial kidney disease
Green
in 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
Green
in Unexplained young onset end-stage renal disease
R-numbers: R257
Signed-off version 4.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hyperuricemic nephropathy, familial juvenile, 4 617056