ERCC3

ERCC excision repair 3, TFIIH core complex helicase subunit
OMIM: 133510, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels
Red ERCC3 in COVID-19 research


Level 2: Viral research
Version 1.147

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • none
Green ERCC3 in Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome


Level 2: Dermatology
Version 3.9
Latest signed off version: v3.8 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Xeroderma pigmentosum, group B, 610651
  • Trichothiodystrophy, 601675
Red ERCC3 in White matter disorders and cerebral calcification - childhood onset


Level 2: Neurology
Version 8.7
Latest signed off version: v8.6 (12 Aug 2026)

Component of the following Super Panels:

  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Trichothiodystrophy 2, photosensitive, OMIM:616390
    • Xeroderma pigmentosum, group B, OMIM:610651
    Green ERCC3 in Childhood solid tumours


    Level 2: Cancer susceptibility
    Version 5.12
    Latest signed off version: v5.11 (6 May 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert List
    Phenotypes
    • Xeroderma pigmentosum, group B, 610651
    Green ERCC3 in Bilateral congenital or childhood onset cataracts


    Level 2: Ophthalmology
    Version 8.13
    Latest signed off version: v8.5 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Trichothiodystrophy
    Red ERCC3 in Primary immunodeficiency or monogenic inflammatory bowel disease


    Level 2: Immunology
    Version 9.105
    Latest signed off version: v9.91 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Red
    • London North GLH
    • NHS GMS
    • North West GLH
    Phenotypes
    • none
    Green ERCC3 in Childhood solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.30

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Xeroderma Pigmentosa
    Green ERCC3 in Adult solid tumours cancer susceptibility


    Level 2: Cancer susceptibility
    Version 2.40
    Latest signed off version: v2.2 (18 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Xeroderma pigmentosum, group B, 610651
    Green ERCC3 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.5
    Latest signed off version: v8.0 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B
    • TRICHOTHIODYSTROPHY PHOTOSENSITIVE
    Green ERCC3 in DDG2P


    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B 610651
    • TRICHOTHIODYSTROPHY PHOTOSENSITIVE 601675
    Red ERCC3 in Monogenic hearing loss


    Level 2: Audiology
    Version 6.42
    Latest signed off version: v6.34 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Expert
    Red ERCC3 in Anophthalmia or microphthalmia

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.57

    review Not set
    Sources
    • UKGTN
    Green ERCC3 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.28
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Xeroderma pigmentosum, group B, 610651Trichothiodystrophy, 601675
    • XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B (XP-B)
    Red ERCC3 in Structural eye disease


    Level 2: Ophthalmology
    Version 5.8
    Latest signed off version: v5.7 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, 616390