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Primary immunodeficiency

Gene: TTC37

Green List (high evidence)

TTC37 (tetratricopeptide repeat domain 37)
EnsemblGeneIds (GRCh38): ENSG00000198677
EnsemblGeneIds (GRCh37): ENSG00000198677
OMIM: 614589, Gene2Phenotype
TTC37 is in 12 panels

5 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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 Phenotype
Created: 2 Jul 2018, 10:35 a.m.
added early-onset tag
Created: 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 rating
Created: 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 syndrome
Created: 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: ENST00000358746
Created: 17 Apr 2018, 12:12 p.m.

Olivia Niblock (Genomics England Curator)

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.

Sophie Hambleton (Newcastle University)

Green List (high evidence)

OMIM:222470
Created: 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
  • A- or hypo-gammaglobulinaemia v1.25
Phenotypes
  • 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
Tags
early-onset
OMIM
614589
Clinvar variants
Variants in TTC37
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TTC37.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to TTC37.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to TTC37.

12 Jul 2018, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

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.

1 Jul 2018, Gel status: 4

Set penetrance

Louise Daugherty (Genomics England Curator)

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

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to TTC37. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to TTC37. Panel: Primary immunodeficiency disorders

13 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: ttc37 has been classified as Green List (High Evidence).

20 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Apr 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for TTC37 were set to 20176027; 21120949; 25688341; 28944135; 29383842; 28292286

20 Apr 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for TTC37 were set to 20176027; 21120949; 25688341; 28944135; 29383842; : 28292286

20 Apr 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

20 Apr 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for TTC37 were set to 20176027; 21120949; 25688341; 28944135; 29383842

20 Apr 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

17 Apr 2018, Gel status: 2

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

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

17 Apr 2018, Gel status: 2

Set penetrance

Louise Daugherty (Genomics England Curator)

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

17 Apr 2018, Gel status: 2

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

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

6 Apr 2018, Gel status: 2

Clear Sources

Louise Daugherty (Genomics England Curator)

TTC37 Source: GOSH PID 20171204 was removed from gene: TTC37

6 Apr 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

GOSH PID v.8.0 was added to TTC37. Panel: Primary immunodeficiency disorders

29 Mar 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

GOSH PID 20171204 was added to TTC37. Panel: Primary immunodeficiency disorders

29 Mar 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

TTC37 was added to Primary immunodeficiency disorders panel. Sources: Expert Review Amber, A- or hypo-gammaglobulinaemia v1.25

29 Mar 2018, Gel status: 2

Created

Louise Daugherty (Genomics England Curator)

TTC37 was created by Louise Daugherty