SEC61A1

Sec61 translocon alpha 1 subunit
OMIM: 609213, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green SEC61A1 in COVID-19 research Level 2: Viral research Version 1.142	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green IUIS Classification December 2019 IUIS Classification December 2019 Phenotypes Severe recurrent respiratory tract infections SEC61A1 deficiency Hyperuricemic nephropathy, familial juvenile, 4, 617056 Predominantly Antibody Deficiencies
Green SEC61A1 in Tubulointerstitial kidney disease Version 3.3 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Familial juvenile Hyperuricemic nephropathy-4 , OMIM:617056
Amber SEC61A1 in Cystic kidney disease Level 3: Structural renal and urinary tract disease Level 2: Renal and urinary tract disorders Version 4.24 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Cystic renal disease Renal superpanel - broad Renal superpanel - narrow	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Expert Review Phenotypes glomerulocystic kidney disease interstitial nephritis chronic kidney disease cystic kidney disease Hyperuricemic nephropathy, familial juvenile, 4, 617056
Amber SEC61A1 in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.202 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber IUIS Classification December 2019 Phenotypes SEC61A1 deficiency Severe recurrent respiratory tract infections Hyperuricemic nephropathy, familial juvenile, 4, 617056 Predominantly Antibody Deficiencies Hypogammaglobulinaemia Severe congenital neutropenia Tags Q4_23_promote_green Q4_23_NHS_review
Amber SEC61A1 in Cytopenia - NOT Fanconi anaemia Version 3.33 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes severe congenital neutropenia, MONDO:0018542 Tubulointerstitial kidney disease, autosomal dominant, 5, OMIM:617056
Green SEC61A1 in Unexplained young onset end-stage renal disease Version 3.41 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Hyperuricemic nephropathy, familial juvenile, 4 617056
Red SEC61A1 in DDG2P Version 3.88 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia
Green SEC61A1 in Renal tubulopathies Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 4.17 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes hyporeninaemic hypoaldosteronism autosomal dominant tubulointerstitial kidney disease
Red SEC61A1 in Groopman et al 2019 - Genes with diagnostic variants Version 0.8	review	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