Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome

Gene: GTF2H5

Green List (high evidence)

GTF2H5 (general transcription factor IIH subunit 5)
EnsemblGeneIds (GRCh38): ENSG00000272047
EnsemblGeneIds (GRCh37): ENSG00000272047
OMIM: 608780, Gene2Phenotype
GTF2H5 is in 11 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Rated green by expert reviewer. It is a confirmed DD gene for Trichothiodystrophy photosensitive, and is green on the ID panel (Version 1.11) for this phenotype after review from 2 experts.
Created: 24 Nov 2016, 3:54 p.m.

Helen Savage (Congenica Ltd)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Photosensitive trichothiodystrophy 3

History Filter Activity

28 Nov 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

28/Nov/2016: Panel combined and revised due to external and internal review.

24 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

24 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

24 Nov 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for GTF2H5 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Nov 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for GTF2H5 were set to Trichothiodystrophy 3, photosensitive;Photosensitive trichothiodystrophy 3

27 Oct 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GTF2H5 was added to Cockayne and Xeroderma Pigmentosum-like disorderspanel. Sources: UKGTN

27 Oct 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GTF2H5 was created by ellenmcdonagh