GUCY2C

guanylate cyclase 2C
OMIM: 601330, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Green GUCY2C in Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.42

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Familial Diarrhea 6 614616
Green GUCY2C in Gastrointestinal epithelial barrier disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.74

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Diarrhea 6, 614616
Amber GUCY2C in COVID-19 research


Level 2: Viral research
Version 1.141

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • GOSH PID v.8.0
  • NHS GMS
  • North West GLH
  • Expert Review Amber
  • North West GLH
  • London North GLH
  • NHS GMS
  • GOSH PID v.8.0
Phenotypes
  • meconium ileus, 614665
  • Diarrhea 6, 614616
Green GUCY2C in Intestinal failure or congenital diarrhoea


Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
  • NHS GMS
Phenotypes
  • Familial Diarrhea 6, OMIM:614616
Green GUCY2C in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 4.191
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • North West GLH
  • London North GLH
  • NHS GMS
  • GOSH PID v.8.0
Phenotypes
  • Diarrhea 6, 614616
  • meconium ileus, 614665
  • Diarrhea 6, OMIM:614616
Green GUCY2C in Fetal anomalies


Version 3.136
Latest signed off version: v3.0 (22 Mar 2023)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MECONIUM ILEUS
  • FAMILIAL DIARRHEA DIARRHEA 6
Green GUCY2C in DDG2P


Version 3.79
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MECONIUM ILEUS
    • FAMILIAL DIARRHEA DIARRHEA 6 614616
    Red GUCY2C in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.474
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Diarrhea 6, 614616
    • Meconium ileus, 614665
    Green GUCY2C in Severe Paediatric Disorders


    Version 1.182

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Diarrhea 6, 614616
    • Meconium ileus, 614665