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  2. Renal Macrocystic Disease
  3. SEC16B
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Renal Macrocystic Disease

Gene: SEC16B

Amber List (moderate evidence)
SEC16B (SEC16 homolog B, endoplasmic reticulum export factor)
EnsemblGeneIds (GRCh38): ENSG00000120341
EnsemblGeneIds (GRCh37): ENSG00000120341
OMIM: 612855, Gene2Phenotype
SEC16B is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Polycystic liver disease (with or without kidney cysts), MONDO:0000447, SEC16B-related

Created: 27 Nov 2022, 11:50 p.m.
Last Modified: 27 Nov 2022, 11:50 p.m.
Panel version: 0.61

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

CLINGEN assessed as LIMITED (2020)
No further evidence since for kidney cysts

SEC61B was first reported in relation to autosomal dominant polycystic liver disease in 2017 (Besse et al., PMID:28375157). At least 2 variants (frameshift, start-loss) have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least 2 probands in 1 publication (PMID:28375157). This gene-disease association is supported by in vitro functional assays. In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship.
Sources: Expert Review
Created: 25 Nov 2022, 1:53 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Polycystic liver disease with or without renal cysts, no OMIM #

Publications

Created: 25 Nov 2022, 1:53 a.m.

Panel version: 0.55

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Polycystic liver disease (with or without kidney cysts), MONDO:0000447, SEC16B-related
OMIM
612855
Clinvar variants
Variants in SEC16B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Nov 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sec16b has been classified as Amber List (Moderate Evidence).

27 Nov 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SEC16B were changed from Polycystic liver disease with or without renal cysts, no OMIM # to Polycystic liver disease (with or without kidney cysts), MONDO:0000447, SEC16B-related

27 Nov 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sec16b has been classified as Amber List (Moderate Evidence).

25 Nov 2022, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: SEC16B was added gene: SEC16B was added to Renal Macrocystic Disease. Sources: Expert Review Mode of inheritance for gene: SEC16B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SEC16B were set to PMID: 28375157, 28862642, 30652979 Phenotypes for gene: SEC16B were set to Polycystic liver disease with or without renal cysts, no OMIM # Review for gene: SEC16B was set to RED