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Intellectual disability

Gene: GUCY2C

Amber List (moderate evidence)

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

4 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

ID is not part of the phenotype.
Created: 7 Feb 2020, 1:39 a.m. | Last Modified: 7 Feb 2020, 1:39 a.m.
Panel Version: 3.0

Konstantinos Varvagiannis (Other)

Red List (low evidence)

According to OMIM mutations in GUCY2C cause Diarrhea 6 (MIM 614616) or Meconium ileus (MIM 614665).

I could not find any evidence in the literature that DD/ID is a feature of either disorder.

In G2P GUCY2C is part of the DD panel associated with the aforementioned diseases. In the article cited (PMID: 22436048) a Norwegian family with 32 affected members is described. The authors provide extensive details on the gastrointestinal phenotype but also on additional characteristics of affected family members (text and Suppl. Table 2). DD/ID was not a feature in any of them.

This gene is not included in gene panels for intellectual disability offered by - at least several - diagnostic laboratories.

As a result, it could probably be demoted to red in this panel.
Created: 15 Dec 2018, 7:59 a.m.

Publications

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : Activating; Loss of function
Created: 27 Jul 2017, 6:29 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

Mode of pathogenicity

Louise Daugherty (Genomics England Curator)

Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to access inclusion and pertinence to this panel.
Created: 28 Jul 2017, 12:20 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Diarrhea 6, 614616
  • Meconium ileus, 614665
OMIM
601330
Clinvar variants
Variants in GUCY2C
Penetrance
Complete
Mode of Pathogenicity
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

28 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

27 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

GUCY2C was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene

27 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

GUCY2C was created by BRIDGE