Intestinal failure or congenital diarrhoea

Gene: TTC37

This 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

Green List (high evidence)

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 given

Created: 8 Jan 2019, 10:52 a.m.

Green List (high evidence)

Green List (high evidence)

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

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