ERCC3

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

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Red ERCC3 in COVID-19 research


Level 2: Viral research
Version 1.70

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 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.8
Signed off v.2.7 on 15 Oct 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Xeroderma pigmentosum, group B, 610651
  • Trichothiodystrophy, 601675

Green ERCC3 in White matter disorders and cerebral calcification - narrow panel


Version 1.26
Signed off v.1.12 on 2 Mar 2020

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Xeroderma pigmentosum, group B, 610651
    • Trichothiodystrophy, 601675

    Green ERCC3 in Tumour predisposition - childhood onset

    Level 3: Childhood Tumours
    Level 2: Tumour syndromes
    Version 2.14
    Signed off v.2.5 on 4 Mar 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert List
    Phenotypes
    • Xeroderma pigmentosum, group B, 610651

    Green ERCC3 in Cataracts

    Level 3: Anterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.17
    Signed off v.2.2 on 19 Feb 2020

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

    Red ERCC3 in Primary immunodeficiency


    Version 2.379
    Signed off v.2.1 on 24 Feb 2020

    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 1.14

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Xeroderma Pigmentosa

    Green ERCC3 in Adult solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 2.6
    Signed off v.2.2 on 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


    Version 1.115
    Signed off v.1.92 on 21 Aug 2020

    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 2.12
    Signed off v.2.2 on 13 Feb 2020

    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 Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.122
    Signed off v.2.5 on 13 Feb 2020

    review Not set
    Sources
    • Expert

    Red ERCC3 in Anophthalmia or microphthalmia

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.29

    review Not set
    Sources
    • UKGTN

    Green ERCC3 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.568
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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


    Version 1.15
    Signed off v.1.3 on 4 Mar 2020

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

    Green ERCC3 in Severe Paediatric Disorders


    Version 1.20

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Trichothiodystrophy 2, photosensitive, 616390
    • Xeroderma pigmentosum, group B, 610651