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DDG2P

Gene: GUCY2C

Green List (high evidence)

GUCY2C (guanylate cyclase 2C)
EnsemblGeneIds (GRCh38): ENSG00000070019
EnsemblGeneIds (GRCh37): ENSG00000070019
OMIM: 601330, Gene2Phenotype
GUCY2C is in 9 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed (for all listed disorders). Multiple MOPs in DD-G2P download: activating, loss of function. Multiple MOIs in DD-G2P download: monoallelic and biallelic.
Created: 19 Nov 2018, 11:30 a.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MECONIUM ILEUS
  • FAMILIAL DIARRHEA DIARRHEA 6 614616
OMIM
601330
Clinvar variants
Variants in GUCY2C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes FAMILIAL DIARRHEA DIARRHEA 6 614616 for gene: GUCY2C Publications for gene GUCY2C were changed from to 22436048

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: GUCY2C was added gene: GUCY2C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GUCY2C was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GUCY2C were set to MECONIUM ILEUS