Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: TTC37Added new-gene-name tag, new approved HGNC gene symbol for TTC37 is SKIC3.Created: 30 Jun 2022, 3:51 p.m. | Last Modified: 30 Jun 2022, 3:59 p.m.
Panel Version: 2.557
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): TTC37 .PanelApp HGNC gene symbol check: TTC37 . IUIS Disease: TTC37 deficiency . IUIS Inheritance: AR , .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Recurrent bacterial and viral infections, Abnormal hair findings: trichorrhexis nodosa. IUIS Major category: Predominantly Antibody Deficiencies. IUIS Subcategory: Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID PhenotypeCreated: 2 Jul 2018, 10:35 a.m.
added early-onset tagCreated: 30 Apr 2018, 11:40 a.m.
Comment on list classification: Changed from Amber to Green due to external expert review, new publications to support immune dysfunction and expert list (GRID)Created: 20 Apr 2018, 4:35 p.m.
Comment on publications: added recent publications to support Green ratingCreated: 20 Apr 2018, 4:28 p.m.
Sufficient cases for causation. More than three cases that present with hepatic / immune dysfunction.Created: 20 Apr 2018, 4:23 p.m.
This gene was present in the original PanelApp PID panel dataset (review in April 2018) rated as Amber. The gene is present in the external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.Created: 20 Apr 2018, 10:27 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: TTC37, PanelApp HGNC gene symbol check: TTC37, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Other well defined PIDs / Trichohepatoenteric syndrome (Giraud syndrome) / Trichohepatoenteric syndromeCreated: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: TTC37, GRID_Gene_Symbol: TTC37, GRID_Transcript_ENS_Community submitted: ENST00000358746, GRID_Transcript_RefSeq: NM_014639.3, GRID_Transcript_ENS_used_on_Production: ENST00000358746Created: 17 Apr 2018, 12:12 p.m.
Comment on list classification: After literature research, clear evidence that variants in this gene are linked to TRICHOHEPATOENTERIC SYNDROME 1, which main symptom appears to be diarrhea. One of the listed symptoms is also immunodeficiency, however hypoglobulinaemia is not specifically mentioned in the literature.Created: 15 Aug 2017, 1:02 p.m.
OMIM:222470Created: 6 Jan 2017, 4:05 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
intrauterine growth retardation, woolly hair; facial dysmorphism; intractable diarrhoea in infancy requiring total parenteral nutrition; hypogammaglobulinaemia
Publications
Tag new-gene-name tag was added to gene: TTC37.
Source NHS GMS was added to TTC37.
Source North West GLH was added to TTC37.
Source London North GLH was added to TTC37.
2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Phenotypes for gene TTC37 were set to Trichohepatoenteric syndrome 1, 222470, Intrauterine growth retardation, woolly hair, facial dysmorphism, intractable diarrhoea in infancy requiring total parenteral nutrition, Hypogammaglobulinaemia, Trichohepatoenteric syndrome, immune dysfunction, Recurrent bacterial and viral infections, Abnormal hair findings: trichorrhexis nodosa, Predominantly Antibody Deficiencies
IUIS Classification February 2018 was added to TTC37. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to TTC37. Panel: Primary immunodeficiency disorders
Gene: ttc37 has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for TTC37 were set to 20176027; 21120949; 25688341; 28944135; 29383842; 28292286
Publications for TTC37 were set to 20176027; 21120949; 25688341; 28944135; 29383842; : 28292286
Phenotypes for TTC37 were set to Trichohepatoenteric syndrome 1, 222470; Intrauterine growth retardation, woolly hair; facial dysmorphism; intractable diarrhoea in infancy requiring total parenteral nutrition; Hypogammaglobulinaemia; Trichohepatoenteric syndrome; immune dysfunction
Publications for TTC37 were set to 20176027; 21120949; 25688341; 28944135; 29383842
Phenotypes for TTC37 were set to Trichohepatoenteric syndrome 1, 222470; Intrauterine growth retardation, woolly hair; facial dysmorphism; intractable diarrhoea in infancy requiring total parenteral nutrition; Hypogammaglobulinaemia; Trichohepatoenteric syndrome
ESID Registry 20171117 was added to TTC37. Panel: Primary immunodeficiency disorders Phenotypes for gene TTC37 were set to Trichohepatoenteric syndrome 1, Intrauterine growth retardation, woolly hair, facial dysmorphism, intractable diarrhoea in infancy requiring total parenteral nutrition, Hypogammaglobulinaemia, Trichohepatoenteric syndrome
Phenotypes for gene TTC37 were set to Trichohepatoenteric syndrome 1, Intrauterine growth retardation, woolly hair, facial dysmorphism, intractable diarrhoea in infancy requiring total parenteral nutrition, Hypogammaglobulinaemia
GRID V2.0 was added to TTC37. Panel: Primary immunodeficiency disorders Phenotypes for gene TTC37 were set to Trichohepatoenteric syndrome 1, Intrauterine growth retardation, woolly hair, facial dysmorphism, intractable diarrhoea in infancy requiring total parenteral nutrition, Hypogammaglobulinaemia
TTC37 Source: GOSH PID 20171204 was removed from gene: TTC37
GOSH PID v.8.0 was added to TTC37. Panel: Primary immunodeficiency disorders
GOSH PID 20171204 was added to TTC37. Panel: Primary immunodeficiency disorders
TTC37 was added to Primary immunodeficiency disorders panel. Sources: Expert Review Amber, A- or hypo-gammaglobulinaemia v1.25
TTC37 was created by Louise Daugherty