PanelApp
  1. Genes and Genomic Entities
  2. ERCC2

ERCC2

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

23 panels

Panel Reviews Mode of inheritance Details
23 panels

Green ERCC2 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 1.1

Component of the following Super Panels:

  • Neuromuscular Superpanel

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

    Red ERCC2 in Blepharophimosis


    Level 2: Ophthalmological disorders
    Version 1.3

    		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 0.396

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green ERCC2 in Chromosome Breakage Disorders


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.24

    		1 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 and Porokeratosis


    Level 2: Dermatological disorders
    Version 1.22

    		1 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 1.3795

    		1 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 0.132

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green ERCC2 in Photosensitivity Syndromes


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.11

    		1 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 0.578

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green ERCC2 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.600

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green ERCC2 in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 1.304

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Xeroderma pigmentosum, group D, MIM# 278730
    • MONDO:0010212

    Green ERCC2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.497

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • xeroderma pigmentosum group D MONDO:0010212
    • trichothiodystrophy 1, photosensitive MONDO:0011125
    • cerebrooculofacioskeletal syndrome 2 MONDO:0012553

    Amber ERCC2 in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.334

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Trichothiodystrophy 1, photosensitive 601675

    Green ERCC2 in Ectodermal Dysplasia


    Level 2: Dermatological disorders
    Version 0.103

    		1 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 0.111

    		0 reviews 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 0.81

    		1 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

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

    Green ERCC2 in Growth failure


    Version 1.86

    		1 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 1.481

    		2 reviews 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 2.15

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Cerebrooculofacioskeletal syndrome 2, MIM# 610756
    • Trichothiodystrophy 1, photosensitive, MIM# 601675
    • Xeroderma pigmentosum, group D, MIM# 278730

    Red ERCC2 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.141

    		1 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 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Cerebrooculofacioskeletal syndrome 2, MIM# 610756
    • Trichothiodystrophy 1, photosensitive, MIM# 601675
    • Xeroderma pigmentosum, group D, MIM# 278730

    Green ERCC2 in Hereditary Pigmentary Disorders


    Level 2: Dermatological disorders
    Version 1.3

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • xeroderma pigmentosum group D MONDO:0010212