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Prepair 1000+

Gene: GUCY2C

Green List (high evidence)

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

1 review

Karina Sandoval (Victorian Clinical Genetics Services)

Green List (high evidence)

Bi-allelic variants: multiple families reported with meconium ileum.

Mono-allelic variants (Diarrhea 6, MIM#614616): Multiple families reported with diarrhoea, evidence for GoF.
Created: 12 Mar 2025, 12:09 a.m. | Last Modified: 12 Mar 2025, 12:09 a.m.
Panel Version: 1.1568

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meconium ileus; MIM#614665

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Meconium ileus, 614665 (3)
OMIM
601330
Clinvar variants
Variants in GUCY2C
Penetrance
None
Panels with this gene

History Filter Activity

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GUCY2C was added gene: GUCY2C was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GUCY2C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GUCY2C were set to Meconium ileus, 614665 (3)