PanelApp (stage)
  1. Genes and Genomic Entities
  2. ERCC2

ERCC2

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

24 panels

Panel Reviews Mode of inheritance Details
24 panels

Red ERCC2 in Blepharophimosis


Level 2: Ophthalmological disorders
Version 1.1

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Cerebrooculofacioskeletal syndrome 2, MIM# 610756

Green ERCC2 in Cataract


Level 2: Ophthalmological disorders
Version 0.366

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

Green ERCC2 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
  • Cerebrooculofacioskeletal syndrome 2, MIM# 610756
  • MONDO:0012553
  • Trichothiodystrophy 1, photosensitive, MIM# 601675
  • MONDO:0011125
  • Xeroderma pigmentosum, group D, MIM# 278730
  • MONDO:0010212

Green ERCC2 in Ichthyosis


Level 2: Dermatological disorders
Version 1.11

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Trichothiodystrophy 1, photosensitive MIM#601675
  • photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility and short stature (PIBIDS)

Green ERCC2 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cerebrooculofacioskeletal syndrome 2, MIM# 610756
  • MONDO:0012553
  • Trichothiodystrophy 1, photosensitive, MIM# 601675
  • MONDO:0011125
  • Xeroderma pigmentosum, group D, MIM# 278730
  • MONDO:0010212

Green ERCC2 in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 0.131

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

Green ERCC2 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
Phenotypes
  • Trichothiodystrophy 1, photosensitive, MIM#601675

Green ERCC2 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 0.522

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

Green ERCC2 in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 0.556

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

Red ERCC2 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 1, photosensitive, MIM# 601675
    • Xeroderma pigmentosum, group D 27, MIM#8730

    Green ERCC2 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

    Amber ERCC2 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 Review Amber
    • Expert list
    Phenotypes
    • Trichothiodystrophy 1, photosensitive 601675

    Red ERCC2 in CGC_86


    Version 0.2

    		review Other
    Sources
    • CGC_86
    Phenotypes
    • Xeroderma pigmentosum, group D

    Red ERCC2 in NCGC


    Version 0.2

    		review Other
    Sources
    • NCGC
    Phenotypes
    • Xeroderma pigmentosum, group D

    Red ERCC2 in TCGA_PANCAN_2018


    Version 0.2

    		review Other
    Sources
    • TCGA_PANCAN_2018
    Phenotypes
    • Xeroderma pigmentosum, group D

    Green ERCC2 in Ectodermal Dysplasia


    Level 2: Dermatological disorders
    Version 0.86

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Trichothiodystrophy 1, photosensitive, MIM# 601675

    Green ERCC2 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Cerebrooculofacioskeletal syndrome 2, 610756 (3)

    Green ERCC2 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 1, photosensitive, 601675

    Green ERCC2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

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

    Green ERCC2 in Growth failure


    Version 1.76

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Cerebrooculofacioskeletal syndrome 2, MIM# 610756
    • Trichothiodystrophy 1, photosensitive, MIM# 601675

    Green ERCC2 in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Cerebrooculofacioskeletal syndrome 2, MIM# 610756
    • MONDO:0012553

    Green ERCC2 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Cerebrooculofacioskeletal syndrome 2, 610756 (3)

    Red ERCC2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Xeroderma pigmentosum, group D, MIM# 278730

    Green ERCC2 in Prepair 500+


    Level 2: Screening
    Version 1.1

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Cerebrooculofacioskeletal syndrome 2, 610756 (3)