PanelApp
  1. Genes and Genomic Entities
  2. ERCC4

ERCC4

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

20 panels

Panel Reviews Mode of inheritance Details
20 panels

Green ERCC4 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.129

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  2 reviews 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 1.24

    		1 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 1.3512

    		1 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 1.357

    		1 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 0.132

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

    Green ERCC4 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
    • 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 1.19

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  1 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 0.594

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

    Green ERCC4 in Additional findings_Adult


    Level 2: Screening
    Version 1.130

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Fanconi anaemia, complementation group Q, MIM# 615272

    Red ERCC4 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 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 1.59

    Component of the following Super Panels:

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

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

    Green ERCC4 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews 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

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

    Green ERCC4 in Growth failure


    Version 1.83

    		1 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 1.465

    		2 reviews 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 0.38

    		1 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 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    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 Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 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 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    • Mackenzie's Mission
    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 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 F MONDO:0010215