Diabetes - neonatal onset

Gene: CISD2

Red List (low evidence)

CISD2 (CDGSH iron sulfur domain 2)
EnsemblGeneIds (GRCh38): ENSG00000145354
EnsemblGeneIds (GRCh37): ENSG00000145354
OMIM: 611507, Gene2Phenotype
CISD2 is in 15 panels

3 reviews

Ivone Leong (Genomics England Curator)

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.

Elisa De Franco (University of Exeter Medical School)

Red List (low evidence)

Rebecca Foulger (Genomics England curator)

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

History Filter Activity

11 Jan 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to CISD2.

31 May 2017, Gel status: 1

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

Promoted panel to Version 1: 31st May 2017. This panel is largely aligned with the Exeter Molecular Genetics Laboratory neonatal diabetes screen. Note that 8 genes feature on the Exeter 8-gene panel for patients with 'neonatal diabetes and autoimmune disease' (FOXP3, IL2RA, ITCH, LRBA, SIRT1, STAT1, STAT3 and STAT5). ITCH, SIRT1, STAT1 and STAT5A/B do not feature on this panel following correspondance with Elisa De-Franco (University of Exeter Medical School) that, at the time of curation, none of the patients with mutations in ITCH, SIRT1, STAT1 and STAT5b had diabetes diagnosed in the neonatal period, and therefore there is currently insufficient evidence to include these genes in this neonatal diabetes panel.

25 May 2017, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Red List (Low Evidence).

25 May 2017, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Red List (Low Evidence).

25 May 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

CISD2 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: Other

25 May 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

CISD2 was created by rfoulger