DEMO Diabetes neonatal onset

Gene: CISD2

Red List (low evidence)

Submitted on hehalf of Jayne Houghton (Royal Devon and Exeter Foundation Trust): "This gene is a known cause of Wolfram-like syndrome. There has been no reported cases of mutations in this gene in patients diagnosed with neonatal diabetes. However it is included in our Exeter panel since we have reported cases of neonatal diabetes in the other Wolfram gene, WFS1."

Created: 31 Jul 2019, 1:38 p.m. | Last Modified: 31 Jul 2019, 1:38 p.m.

Panel Version: 1.46

Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: CISD2; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Wolfram type 2 (Wolfram-like but absence of diabetes insipidus and psychiatric disorders but presence of upper intestinal ulcers and defective platelet aggregation).

Created: 11 Jan 2019, 4:27 p.m.

Red List (low evidence)

Comment when marking as ready: Marked as Ready: 25th May 2017.

Created: 25 May 2017, 10:37 a.m.

Comment on list classification: Kept rating as red, because this gene has not yet been shown to cause diabetes in the neonatal period [Elisa De-Franco (University of Exeter Medical School, personal communication, May 24th 2017].

Created: 25 May 2017, 10:37 a.m.

Added CISD2 to the panel because it features on the Exeter 28-gene neonatal diabetes screen. However a correspondance from Dr. Elisa De-Franco (University of Exeter Medical School) reports that to date, all patients reported with homozygous CISD2 mutations developed diabetes outside the neonatal period, so for now this gene has not been shown to cause neonatal diabetes [personal communication, May 24th 2017].

Created: 25 May 2017, 10:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal