Intestinal failure or congenital diarrhoea
Gene: TTC37This gene has been confirmed for this panel by the NHS Genomic Medicine Service and should be rated green.Created: 8 Mar 2022, 11:44 a.m. | Last Modified: 8 Mar 2022, 11:44 a.m.
Panel Version: 1.48
Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 24 Jan 2019, 4:44 p.m.
Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: TTC37; 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 givenCreated: 8 Jan 2019, 10:52 a.m.
Added new-gene-name tag, new approved HGNC gene symbol for TTC37 is SKIC3.Created: 30 Jun 2022, 3:50 p.m. | Last Modified: 30 Jun 2022, 3:59 p.m.
Panel Version: 1.48
Associated with phenotype in OMIM and G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel and Emory Genetics Laboratory Early Onset Inflammatory Bowel Disease: Sequencing Panel. Nine variants reported.Created: 5 Sep 2016, 7 a.m.
Publications
Tag new-gene-name tag was added to gene: TTC37.
Phenotypes for gene: TTC37 were changed from Trichohepatoenteric syndrome 1 222470 to Trichohepatoenteric syndrome 1, OMM:222470
Gene: ttc37 has been classified as Green List (High Evidence).
Source Other was added to TTC37. Mode of inheritance for gene TTC37 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Trichohepatoenteric syndrome 1 222470 for gene: TTC37 Publications for gene TTC37 were changed from 27302973 to 27302973; 20176027
Publications for gene: TTC37 were set to
Source Expert Review Green was added to TTC37. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: TTC37 was added gene: TTC37 was added to Intestinal failure. Sources: NHS GMS Mode of inheritance for gene: TTC37 was set to