Cataract
Gene: GUCY2C
GUCY2C (guanylate cyclase 2C)
EnsemblGeneIds (GRCh38): ENSG00000070019
EnsemblGeneIds (GRCh37): ENSG00000070019
OMIM: 601330, Gene2Phenotype
GUCY2C is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000070019
EnsemblGeneIds (GRCh37): ENSG00000070019
OMIM: 601330, Gene2Phenotype
GUCY2C is in 10 panels
1 review
Lauren Akesson (Royal Melbourne Hospital)
Cataract does not appear to be a typical feature in these conditions (OMIM)Created: 23 Mar 2020, 4:27 a.m. | Last Modified: 23 Mar 2020, 4:27 a.m.
Panel Version: 0.54
Cataract does not appear to be a typical feature in these conditions (OMIM)Created: 23 Mar 2020, 4:26 a.m. | Last Modified: 23 Mar 2020, 4:26 a.m.
Panel Version: 0.52
Phenotypes
Diarrhea 6, 614616; Meconium ileus, 614665
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Diarrhea 6, 614616
- Meconium ileus, 614665
- OMIM
- 601330
- Clinvar variants
- Variants in GUCY2C
- Penetrance
- None
- Panels with this gene
History Filter Activity
23 Mar 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gucy2c has been classified as Red List (Low Evidence).
23 Mar 2020, Gel status: 1
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: GUCY2C were changed from to Diarrhea 6, 614616; Meconium ileus, 614665
23 Mar 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gucy2c has been classified as Red List (Low Evidence).
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 Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GUCY2C was set to Unknown