Gene Symbol:
GUCY2C
HGNC:4688
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
12p12.3
Filters:

Definitive classifications

intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
Submitted as: OMIM:614665
AR
07/22/2015
Evaluated
09/11/2023
Submitted
congenital diarrhea 6
Submitted as: OMIM:614616
AD
07/22/2015
Evaluated
09/11/2023
Submitted

Strong classifications

congenital diarrhea 6
Submitted as: OMIM:614616
AD
01/05/2021
Evaluated
01/21/2021
Submitted
congenital diarrhea 6
Submitted as: OMIM:614616
AD
05/06/2021
Evaluated
11/30/2023
Submitted
intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
Submitted as: OMIM:614665
AR
04/09/2020
Evaluated
11/30/2023
Submitted

Supportive classifications

congenital sodium diarrhea
Submitted as: Orphanet:103908
AD
09/14/2021
Evaluated
09/14/2021
Submitted
congenital diarrhea 6
Submitted as: Orphanet:314373
AD
09/14/2021
Evaluated
09/14/2021
Submitted
intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
Submitted as: Orphanet:314376
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

congenital diarrhea 6
Submitted as: OMIM:614616
AR
06/23/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more

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