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  2. Polycystic liver disease
  3. SEC16B
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Polycystic liver 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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated individuals with limited supporting functional data reported. Assessed as LIMITED by ClinGen.
Sources: Expert Review
Created: 28 Nov 2022, 12:01 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 28 Nov 2022, 12:01 a.m.

Panel version: 1.6

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

28 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).

28 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).

28 Nov 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SEC16B was added gene: SEC16B was added to Polycystic liver 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 28375157; 28862642; 30652979 Phenotypes for gene: SEC16B were set to Polycystic liver disease (with or without kidney cysts), MONDO:0000447, SEC16B-related Review for gene: SEC16B was set to AMBER