ERCC2

ERCC excision repair 2, TFIIH core complex helicase subunit
OMIM: 126340, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels
Red ERCC2 in COVID-19 research


Level 2: Viral research
Version 1.141

review Unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Other
  • North West GLH
  • Victorian Clinical Genetics Services
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
  • Expert Review Red
  • Other
Phenotypes
  • Combined immunodeficiency (CID) in a child affected by trichothiodystrophy (TTD)
  • CD4 + lymphopenia
Green ERCC2 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
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Xeroderma pigmentosum, group D, 278730
  • Trichothiodystrophy, 601675
Amber ERCC2 in White matter disorders and cerebral calcification - narrow panel


Version 3.31
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    Phenotypes
    • Trichothiodystrophy 1, photosensitive, OMIM:601675
    Green ERCC2 in Childhood solid tumours

    Level 3: Childhood Tumours
    Level 2: Tumour syndromes
    Version 4.15
    Latest signed off version: v4.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert List
    Phenotypes
    • Xeroderma pigmentosum, group D, 278730
    Green ERCC2 in Bilateral congenital or childhood onset cataracts

    Level 3: Anterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.8
    Latest signed off version: v4.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cerebrooculofacioskeletal syndrome 2
    • Trichothiodystrophy
    • CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2
    • TRICHOTHIODYSTROPHY PHOTOSENSITIVE
    Red ERCC2 in Primary immunodeficiency or monogenic inflammatory bowel disease


    Version 4.192
    Latest signed off version: v4.0 (22 Mar 2023)

    review Unknown
    Sources
    • London North GLH
    • NHS GMS
    • North West GLH
    • Victorian Clinical Genetics Services
    • Expert Review Red
    • Other
    Phenotypes
    • Combined immunodeficiency (CID) in a child affected by trichothiodystrophy (TTD)
    • CD4 + lymphopenia
    Red ERCC2 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.179

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Green ERCC2 in Childhood solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.26

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Xeroderma Pigmentosa
    Green ERCC2 in Adult solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 2.29
    Latest signed off version: v2.2 (18 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Xeroderma pigmentosum, group D, 278730
    Green ERCC2 in Fetal anomalies


    Version 3.137
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP D
    • CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2
    • TRICHOTHIODYSTROPHY PHOTOSENSITIVE
    Green ERCC2 in DDG2P


    Version 3.79
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP D 278730
    • CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2 610756
    • TRICHOTHIODYSTROPHY PHOTOSENSITIVE 601675
    Red ERCC2 in Monogenic hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.25
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Expert
    Red ERCC2 in Anophthalmia or microphthalmia

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.51

    review Not set
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Xeroderma pigmentosum, group D, 278730Trichothiodystrophy, 601675Cerebrooculofacioskeletal syndrome 2, 610756
    Green ERCC2 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.480
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Xeroderma pigmentosum, group D, 278730Trichothiodystrophy, 601675Cerebrooculofacioskeletal syndrome 2, 610756
    • CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2 (COFS2)
    Red ERCC2 in Structural eye disease


    Version 3.74
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, 601675
    • Xeroderma pigmentosum, group D, 278730
    • Trichothiodystrophy, 601675
    • Cerebrooculofacioskeletal syndrome 2, 610756
    Amber ERCC2 in Sarcoma susceptibility


    Version 1.77
    Latest signed off version: v1.2 (18 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Sarcoma, MONDO:0005089
    Green ERCC2 in Severe Paediatric Disorders


    Version 1.182

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • ?Cerebrooculofacioskeletal syndrome 2, 610756
    • Trichothiodystrophy 1, photosensitive, 601675
    • Xeroderma pigmentosum, group D, 278730