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 Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 1.99

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Xeroderma pigmentosum, group B, MIM# 610651

    Green ERCC3 in Cataract


    Level 2: Ophthalmological disorders
    Version 0.373

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green ERCC3 in Chromosome Breakage Disorders


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.21

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Trichothiodystrophy 2, photosensitive, MIM# 616390
    • Xeroderma pigmentosum, group B 61, MIM#0651

    Red ERCC3 in Ichthyosis


    Level 2: Dermatological disorders
    Version 1.11

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Trichothiodystrophy 2, photosensitive MIM#616390

    Green ERCC3 in Mendeliome


    Version 1.2374

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Trichothiodystrophy 2, photosensitive, MIM# 616390
    • Xeroderma pigmentosum, group B 61, MIM#0651

    Green ERCC3 in Cancer Predisposition_Paediatric


    Level 2: Cancer
    Version 0.131

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green ERCC3 in Photosensitivity Syndromes


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.8

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Trichothiodystrophy 2, photosensitive, MIM# 616390
    • Xeroderma pigmentosum, group B 61, MIM#0651

    Green ERCC3 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.573

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green ERCC3 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • xeroderma pigmentosum group B MONDO:0012531

    Red ERCC3 in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.318

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    Phenotypes
    • Trichothiodystrophy 2, photosensitive 616390

    Green ERCC3 in Hair disorders


    Level 2: Dermatological disorders
    Version 0.71

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Literature
    • Victorian Clinical Genetics Services
    Phenotypes
    • Trichothiodystrophy 2, photosensitive, 616390

    Red ERCC3 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Xeroderma pigmentosum

    Green ERCC3 in Growth failure


    Version 1.76

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Trichothiodystrophy 2, photosensitive, MIM# 616390
    • Xeroderma pigmentosum, group B 61, MIM#0651

    Green ERCC3 in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Xeroderma pigmentosum, group B 61, MIM#0651
    • Trichothiodystrophy 2, photosensitive, MIM# 616390

    Red ERCC3 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Xeroderma pigmentosum