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 1.142

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 3.3
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Trichothiodystrophy 3, photosensitive
  • Photosensitive trichothiodystrophy 3
Amber GTF2H5 in White matter disorders and cerebral calcification - narrow panel


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    Phenotypes
    • delayed myelination
    Green GTF2H5 in Bilateral congenital or childhood onset cataracts

    Level 3: Anterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.14
    Latest signed off version: v4.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Trichothiodystrophy 3, photosensitive, 616395
    Red GTF2H5 in Primary immunodeficiency or monogenic inflammatory bowel disease


    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    review Not set
    Sources
    • London North GLH
    • NHS GMS
    • North West GLH
    Green GTF2H5 in Fetal anomalies


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • TRICHOTHIODYSTROPHY PHOTOSENSITIVE
    Green GTF2H5 in DDG2P


    Version 4.5
    Latest signed off version: v4.0 (1 May 2024)

    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 1.52

    review Not set
    Sources
    • UKGTN
    Green GTF2H5 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.26
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • 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 3.79
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE, 616395
    Green GTF2H5 in Severe Paediatric Disorders


    Version 1.184

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