PanelApp (test)
  1. Genes and Genomic Entities
  2. GTF2H5:Ensemblv90

GTF2H5:Ensemblv90

general transcription factor IIH subunit 5
OMIM: 608780, ClinGen, DECIPHER

25 panels

Panel Reviews Mode of inheritance Details
25 panels

Green GTF2H5 in Cataract


Level 2: Ophthalmological disorders
Version 0.396

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Trichothiodystrophy 3, photosensitive (MIM# 616395)

Green GTF2H5 in Chromosome Breakage Disorders


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.24

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Trichothiodystrophy 3, photosensitive, MIM# 616395
  • MONDO:0014619

Amber GTF2H5 in Ichthyosis and Porokeratosis


Level 2: Dermatological disorders
Version 1.23

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Trichothiodystrophy 3, photosensitive MIM#616395

Green GTF2H5 in Mendeliome


Version 1.3802

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Trichothiodystrophy 3, photosensitive, MIM# 616395
  • MONDO:0014619

Green GTF2H5 in Photosensitivity Syndromes


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.11

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Trichothiodystrophy 3, photosensitive, MIM# 616395

Red GTF2H5 in Hyper-IgE syndrome


Level 2: Immunological disorders
Version 1.6

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Immunology Flagship
Phenotypes
  • Trichothiodystrophy 3, photosensitive, MIM# 616395

Green GTF2H5 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.508

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Trichothiodystrophy 3, photosensitive MIM#616395

Red GTF2H5 in Leukodystrophy - paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 0.334

Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

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

    Green GTF2H5 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.111

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Trichothiodystrophy 3, photosensitive, 616395 (3)

    Green GTF2H5 in Hair disorders


    Level 2: Dermatological disorders
    Version 0.81

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Literature
    • Victorian Clinical Genetics Services
    Phenotypes
    • Trichothiodystrophy 3, photosensitive, 616395

    Red GTF2H5 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Trichothiodystrophy

    Green GTF2H5 in Growth failure


    Version 1.87

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Trichothiodystrophy 3, photosensitive, MIM# 616395
    • MONDO:0014619

    Green GTF2H5 in Fetal anomalies


    Version 1.482

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    Phenotypes
    • Trichothiodystrophy 3, photosensitive (MIM# 616395)

    Green GTF2H5 in Prepair 1000+


    Level 2: Screening
    Version 2.15

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Trichothiodystrophy 3, photosensitive, MIM# 616395

    Red GTF2H5 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.141

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Trichothiodystrophy

    Green GTF2H5 in Cataract


    Level 2: Ophthalmological disorders
    Version 1.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Trichothiodystrophy 3, photosensitive (MIM# 616395)

    Green GTF2H5 in Chromosome Breakage Disorders


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Trichothiodystrophy 3, photosensitive, MIM# 616395
    • MONDO:0014619

    Amber GTF2H5 in Ichthyosis and Porokeratosis


    Level 2: Dermatological disorders
    Version 2.0

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Amber
    Phenotypes
    • Trichothiodystrophy 3, photosensitive MIM#616395

    Green GTF2H5 in Photosensitivity Syndromes


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Trichothiodystrophy 3, photosensitive, MIM# 616395

    Red GTF2H5 in Hyper-IgE syndrome


    Level 2: Immunological disorders
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Australian Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Expert Review Red
    Phenotypes
    • Trichothiodystrophy 3, photosensitive, MIM# 616395

    Green GTF2H5 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Genetic Health Queensland
    • Expert Review Green
    Phenotypes
    • Trichothiodystrophy 3, photosensitive MIM#616395

    Red GTF2H5 in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

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

    Green GTF2H5 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 1.0

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Mackenzie's Mission
    • Expert Review Green
    Phenotypes
    • Trichothiodystrophy 3, photosensitive, 616395 (3)

    Green GTF2H5 in Growth failure


    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review
    • Expert Review Green
    Phenotypes
    • Trichothiodystrophy 3, photosensitive, MIM# 616395
    • MONDO:0014619

    Green GTF2H5 in Prepair 1000+


    Level 2: Screening
    Version 3.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Mackenzie's Mission
    • Expert Review Green
    Phenotypes
    • Trichothiodystrophy 3, photosensitive, MIM# 616395