PanelApp
  1. Genes and Genomic Entities
  2. ERCC1

ERCC1

ERCC excision repair 1, endonuclease non-catalytic subunit
OMIM: 126380, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green ERCC1 in Blepharophimosis


Level 2: Ophthalmological disorders
Version 1.3

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Cerebrooculofacioskeletal syndrome 4, MIM# 610758

Green ERCC1 in Cholestasis


Level 2: Gastroenterological disorders
Version 1.5

Component of the following Super Panels:

  • Liverome Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Hepatorenal syndrome, MONDO:0001382, ERCC1-related

    Green ERCC1 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 4, MIM# 610758
    • MONDO:0012554

    Green ERCC1 in Mendeliome


    Version 1.3512

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cerebrooculofacioskeletal syndrome 4, MIM# 610758
    • MONDO:0012554
    • Hepatorenal syndrome, MONDO:0001382, ERCC1-related

    Green ERCC1 in Cancer Predisposition_Paediatric


    Level 2: Cancer
    Version 0.132

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

    Green ERCC1 in Photosensitivity Syndromes


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.10

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cerebrooculofacioskeletal syndrome 4, MIM# 610758

    Green ERCC1 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.565

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

    Green ERCC1 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.594

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

    Green ERCC1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Cerebrooculofacioskeletal syndrome 4, MIM# 610758
    • MONDO:0012554

    Red ERCC1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

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

    Green ERCC1 in Liver Failure_Paediatric


    Level 2: Gastroenterological disorders
    Version 1.30

    Component of the following Super Panels:

  • Liverome Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Hepatorenal syndrome, MONDO:0001382, ERCC1-related

    Green ERCC1 in Growth failure


    Version 1.83

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Hepatorenal syndrome, MONDO:0001382, ERCC1-related

    Green ERCC1 in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Cerebrooculofacioskeletal syndrome 4, MIM# 610758
    • MONDO:0012554

    Red ERCC1 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

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

    Green ERCC1 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
    • cerebrooculofacioskeletal syndrome 4 MONDO:0012554
    • Xeroderma pigmentosum