GTF2H5

general transcription factor IIH subunit 5
OMIM: 608780
PanelMode of inheritanceDetails
6 panels
Green
in Cataracts
R-numbers: R31
Signed-off version 2.76
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trichothiodystrophy 3, photosensitive, 616395
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
TRICHOTHIODYSTROPHY PHOTOSENSITIVE 601675
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
TRICHOTHIODYSTROPHY PHOTOSENSITIVE
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trichothiodystrophy, complementation group A, 601675, TRICHOTHIODYSTROPHY PHOTOSENSITIVE
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Photosensitive trichothiodystrophy 3, Trichothiodystrophy 3, photosensitive
R-numbers: R227
Signed-off version 2.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trichothiodystrophy 3, photosensitive, Photosensitive trichothiodystrophy 3