PanelApp
  1. Genes and Genomic Entities
  2. ERCC4

ERCC4

ERCC excision repair 4, endonuclease catalytic subunit
OMIM: 133520, ClinGen, DECIPHER

23 panels

Panel Reviews Mode of inheritance Details
23 panels

Green ERCC4 in Haematological malignancies


Level 2: Cancer susceptibility
Version 0.148

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Curated sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • MDS
  • Fanconi anemia
  • AML
  • Squamous cell carcinoma: oral, GI, vulvar
  • Class: BM failure FA, (typ AR)

Green ERCC4 in Bone Marrow Failure


Level 2: Haematological disorders
Version 2.9

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 2.3

    		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 2.604

    		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 2.32

    		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 1.2

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

    Green ERCC4 in Photosensitivity Syndromes


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.0

    		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 2.0

    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 1.8

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

    Green ERCC4 in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 2.11

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Xeroderma pigmentosum, group F, MIM# 278760
    • MONDO:0010215

    Green ERCC4 in Additional findings_Adult


    Level 2: Screening
    Version 3.1

    		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 2.145

    		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


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.157

    Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions

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

    Green ERCC4 in Hereditary Neuropathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.101

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • ERCC4-related neuropathy MONDO:0100545

    Green ERCC4 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 1.0

    		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 1.1

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

    Green ERCC4 in Growth failure


    Version 2.28

    		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 2.82

    		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 1.2

    		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 3.0

    		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 2.7

    		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 3.0

    		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 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • xeroderma pigmentosum group F MONDO:0010215