PanelApp (test)
  1. Genes and Genomic Entities
  2. ERCC3

ERCC3

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

19 panels

Panel Reviews Mode of inheritance Details
19 panels

Red ERCC3 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 1.96

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 0.366

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

    Green ERCC3 in Chromosome Breakage Disorders


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.19

    		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 1.1902

    		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 0.556

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

    Red ERCC3 in Hyper-IgE syndrome


    Level 2: Immunological disorders
    Version 1.5

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  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 2, photosensitive, MIM# 616390
    • Xeroderma pigmentosum, group B 61, MIM#0651

    Green ERCC3 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review Unknown
    Sources
    • Genetic Health Queensland
    • Expert Review Green

    Red ERCC3 in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.308

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    Phenotypes
    • Trichothiodystrophy 2, photosensitive 616390

    Red ERCC3 in CGC_86


    Version 0.2

    		review Other
    Sources
    • CGC_86
    Phenotypes
    • Xeroderma Pigmentosum, Complementation Group B

    Red ERCC3 in NCGC


    Version 0.2

    		review Other
    Sources
    • NCGC
    Phenotypes
    • Xeroderma Pigmentosum, Complementation Group B

    Red ERCC3 in TCGA_PANCAN_2018


    Version 0.2

    		review Other
    Sources
    • TCGA_PANCAN_2018
    Phenotypes
    • Xeroderma Pigmentosum, Complementation Group B

    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 1.255

    		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 1.114

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