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  3. GTF2H5
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Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: GTF2H5

Red List (low evidence)
GTF2H5 (general transcription factor IIH subunit 5)
EnsemblGeneIds (GRCh38): ENSG00000272047
EnsemblGeneIds (GRCh37): ENSG00000272047
OMIM: 608780, Gene2Phenotype
GTF2H5 is in 10 panels

1 review

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Trichothiodystrophy: green association (3 unrelated cases), ?phenotype relevant: recurrent infective exacerbations of asthma
Created: 26 Sep 2019, 3:54 p.m. | Last Modified: 26 Sep 2019, 3:54 p.m.
Panel Version: 1.130
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 only enough evidence to rate this gene Red
Created: 26 Sep 2019, 2:54 p.m. | Last Modified: 26 Sep 2019, 2:54 p.m.
Panel Version: 1.127
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 only enough evidence to rate this gene Red
Created: 26 Sep 2019, 2:54 p.m. | Last Modified: 26 Sep 2019, 2:54 p.m.
Panel Version: 1.127
Genes with discrepant ratings (PID 100K vs sumbmitted LNGLH submitted Immunology lists)--agreed rating in webex call 28 March 2019
Created: 26 Sep 2019, 2:54 p.m. | Last Modified: 26 Sep 2019, 2:54 p.m.
Panel Version: 1.127
Created: 17 Sep 2019, 1:43 p.m.
Last Modified: 17 Sep 2019, 1:43 p.m.
Panel version: 1.130

History Filter Activity

17 Sep 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to GTF2H5.

17 Sep 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to GTF2H5.

17 Sep 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: GTF2H5 was added gene: GTF2H5 was added to Primary immunodeficiency. Sources: North West GLH Mode of inheritance for gene: GTF2H5 was set to