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  3. SEC61A1
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Renal Tubulointerstitial Disease

Gene: SEC61A1

Green List (high evidence)
SEC61A1 (Sec61 translocon alpha 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000058262
EnsemblGeneIds (GRCh37): ENSG00000058262
OMIM: 609213, Gene2Phenotype
SEC61A1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two families and zebrafish model.
Created: 26 Aug 2020, 9:47 p.m. | Last Modified: 26 Aug 2020, 9:47 p.m.
Panel Version: 0.22

Phenotypes
Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056

Publications

Created: 26 Aug 2020, 9:47 p.m.
Last Modified: 26 Aug 2020, 9:47 p.m.
Panel version: 0.22

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_Tubulointerstitial v38.1.0
Phenotypes
  • Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056
OMIM
609213
Clinvar variants
Variants in SEC61A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sec61a1 has been classified as Green List (High Evidence).

26 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SEC61A1 were changed from to Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056

26 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SEC61A1 were set to

26 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SEC61A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SEC61A1 was added gene: SEC61A1 was added to Renal tubulointerstitial disease_KidGen. Sources: KidGen_Tubulointerstitial v38.1.0,Expert Review Green Mode of inheritance for gene: SEC61A1 was set to Unknown