Genomics England
GMS Panels
Panels
Genes and Entities

GTF2H5

general transcription factor IIH subunit 5
OMIM: 608780
PanelMode of inheritanceDetails
5 panels
Green
in Bilateral congenital or childhood onset cataracts
R-numbers: R31
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trichothiodystrophy 3, photosensitive, 616395
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
TRICHOTHIODYSTROPHY PHOTOSENSITIVE 601675
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
TRICHOTHIODYSTROPHY PHOTOSENSITIVE
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trichothiodystrophy, complementation group A, 601675, TRICHOTHIODYSTROPHY PHOTOSENSITIVE
Green
in Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
R-numbers: R227
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trichothiodystrophy 3, photosensitive, Photosensitive trichothiodystrophy 3