GTF2H5

general transcription factor IIH subunit 5
OMIM: 608780, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Red GTF2H5 in COVID-19 research


Level 2: Viral research
Version 1.80

review Unknown
Sources
  • London North GLH
  • NHS GMS
  • North West GLH
  • London North GLH
  • NHS GMS
  • North West GLH

Green GTF2H5 in Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.18
Latest signed off version: v2.7 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Trichothiodystrophy 3, photosensitive
  • Photosensitive trichothiodystrophy 3

Green GTF2H5 in White matter disorders and cerebral calcification - narrow panel


Version 1.206
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • delayed myelination
    Tags
    • Q2_21_rating
    • Q2_21_expert_review

    Green GTF2H5 in Cataracts

    Level 3: Anterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.85
    Latest signed off version: v2.76 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Trichothiodystrophy 3, photosensitive, 616395

    Red GTF2H5 in Primary immunodeficiency


    Version 2.477
    Latest signed off version: v2.1 (24 Feb 2020)

    review Not set
    Sources
    • London North GLH
    • NHS GMS
    • North West GLH

    Green GTF2H5 in Fetal anomalies


    Version 1.728
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • TRICHOTHIODYSTROPHY PHOTOSENSITIVE

    Green GTF2H5 in DDG2P


    Version 2.49
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • TRICHOTHIODYSTROPHY PHOTOSENSITIVE 601675

    Red GTF2H5 in Anophthalmia or microphthalmia

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.42

    review Not set
    Sources
    • UKGTN

    Green GTF2H5 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1367
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Trichothiodystrophy, complementation group A, 601675
    • TRICHOTHIODYSTROPHY PHOTOSENSITIVE

    Red GTF2H5 in Structural eye disease


    Version 1.83
    Latest signed off version: v1.3 (4 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE, 616395

    Green GTF2H5 in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Trichothiodystrophy 3, photosensitive, 616395