PanelApp (test)
  1. Genes and Genomic Entities
  2. ERCC4

ERCC4

ERCC excision repair 4, endonuclease catalytic subunit
OMIM: 133520, Gene2Phenotype

21 panels

Panel Reviews Mode of inheritance Details
21 panels

Green ERCC4 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.93

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anemia, complementation group Q, MIM# 615272

Green ERCC4 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
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anemia, complementation group Q, MIM# 615272
  • MONDO:0014108
  • Xeroderma pigmentosum, group F, MIM# 278760
  • MONDO:0010215
  • XFE progeroid syndrome, MIM# 610965
  • MONDO:0012590

Green ERCC4 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anemia, complementation group Q, MIM# 615272
  • MONDO:0014108
  • Xeroderma pigmentosum, group F, MIM# 278760
  • MONDO:0010215
  • XFE progeroid syndrome, MIM# 610965
  • MONDO:0012590

Green ERCC4 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Fanconi anemia, complementation group Q (MIM#615272)
  • Cockayne syndrome (MIM#278760)

Green ERCC4 in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 0.131

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

Green ERCC4 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
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia, complementation group Q, MIM# 615272
  • MONDO:0014108
  • Xeroderma pigmentosum, group F, MIM# 278760
  • MONDO:0010215
  • XFE progeroid syndrome, MIM# 610965
  • MONDO:0012590

Green ERCC4 in Radial Ray Abnormalities


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.10

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi aanemia, complementation group Q, MIM# 615272
    • MONDO:0014108

    Green ERCC4 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.556

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

    Red ERCC4 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Xeroderma pigmentosum, group F, MIM#278760
    • XFE progeroid syndrome, MIM# 610965

    Green ERCC4 in Ataxia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.16

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cerebellar ataxia
    • Xeroderma pigmentosum, group F, MIM# 278760

    Red ERCC4 in CGC_86


    Version 0.2

    		review Other
    Sources
    • CGC_86
    Phenotypes
    • Fanconi anemia, complementation group Q
    • Xeroderma pigmentosum, group F

    Red ERCC4 in NCGC


    Version 0.2

    		review Other
    Sources
    • NCGC
    Phenotypes
    • Fanconi anemia, complementation group Q
    • Xeroderma pigmentosum, group F

    Red ERCC4 in TCGA_PANCAN_2018


    Version 0.2

    		review Other
    Sources
    • TCGA_PANCAN_2018
    Phenotypes
    • Fanconi anemia, complementation group Q
    • Xeroderma pigmentosum, group F

    Green ERCC4 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
    • Fanconi anemia, complementation group Q, 615272 (3)

    Red ERCC4 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 ERCC4 in Growth failure


    Version 1.76

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi anemia, complementation group Q, MIM# 615272
    • MONDO:0014108
    • XFE progeroid syndrome, MIM# 610965
    • MONDO:0012590

    Green ERCC4 in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi anaemia, complementation group Q, MIM# 615272
    • MONDO:0014108
    • XFE progeroid syndrome, MIM# 610965

    Green ERCC4 in IBMDx study


    Version 0.25

    		review Unknown
    Sources
    • Expert Review Green
    • IBMDx Study
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi anemia, complementation group Q, MIM# 615272

    Green ERCC4 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Fanconi anemia, complementation group Q, 615272 (3)

    Green ERCC4 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category C gene
    • BeginNGS
    Phenotypes
    • Fanconi anemia, complementation group Q, MIM# 615272
    Tags
    • treatable
    • haematological

    Green ERCC4 in Prepair 500+


    Level 2: Screening
    Version 1.1

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Fanconi anemia, complementation group Q, 615272 (3)