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  2. Polycystic liver disease
  3. SEC61B
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Polycystic liver disease

Gene: SEC61B

Amber List (moderate evidence)
SEC61B (Sec61 translocon beta subunit)
EnsemblGeneIds (GRCh38): ENSG00000106803
EnsemblGeneIds (GRCh37): ENSG00000106803
OMIM: 609214, Gene2Phenotype
SEC61B is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated individuals reported.Sources: Expert list
Created: 4 Aug 2020, 12:53 a.m. | Last Modified: 4 Aug 2020, 12:56 a.m.
Panel Version: 0.23

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Polycystic liver disease with or without renal cysts

Publications

Created: 4 Aug 2020, 12:53 a.m.
Last Modified: 4 Aug 2020, 12:56 a.m.
Panel version: 0.23

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Polycystic liver disease with or without renal cysts
OMIM
609214
Clinvar variants
Variants in SEC61B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Aug 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SEC61B were set to 28862642; 30652979

4 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sec61b has been classified as Amber List (Moderate Evidence).

4 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sec61b has been classified as Amber List (Moderate Evidence).

4 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SEC61B was added gene: SEC61B was added to Polycystic liver disease. Sources: Expert list Mode of inheritance for gene: SEC61B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SEC61B were set to 28862642; 30652979 Phenotypes for gene: SEC61B were set to Polycystic liver disease with or without renal cysts Review for gene: SEC61B was set to AMBER