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Congenital Diarrhoea
Gene: GUCY2C

GUCY2C (guanylate cyclase 2C)
EnsemblGeneIds (GRCh38): ENSG00000070019
EnsemblGeneIds (GRCh37): ENSG00000070019
OMIM: 601330, Gene2Phenotype
GUCY2C is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families reported, evidence for GoF.
Created: 5 Jan 2021, 1:41 a.m. | Last Modified: 5 Jan 2021, 1:41 a.m.

Panel Version: 0.47

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diarrhoea 6, MIM# 614616

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 5 Jan 2021, 1:41 a.m.
Last Modified: 5 Jan 2021, 1:41 a.m.
Panel version: 0.47

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Diarrhoea 6, MIM# 614616

OMIM

Clinvar variants

Variants in GUCY2C

Penetrance

None

Publications

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Panels with this gene

History Filter Activity

5 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gucy2c has been classified as Green List (High Evidence).

5 Jan 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GUCY2C were changed from to Diarrhoea 6, MIM# 614616

5 Jan 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GUCY2C were set to

5 Jan 2021, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: GUCY2C was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

5 Jan 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GUCY2C 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: GUCY2C was added gene: GUCY2C was added to Congenital Diarrhoea_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GUCY2C was set to Unknown