ERCC4

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

25 panels

Panel Reviews Mode of inheritance Details
25 panels

Green ERCC4 in Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.15

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Eligibility statement prior genetic testing
Phenotypes
  • Fanconi anemia, complementation group Q, 615272

Green ERCC4 in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.7

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

Red ERCC4 in Neurofibromatosis Type 1

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.26

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Xeroderma pigmentosum, group F, 278760
  • XFE progeroid syndrome, 610965
  • Fanconi anemia, complementation group Q, 615272
  • Xeroderma pigmentosum, type F/Cockayne syndrome, 278760
  • Fanconi Anaemia

Green ERCC4 in COVID-19 research


Level 2: Viral research
Version 1.80

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Fanconi anemia, complementation group Q, 615272
  • Bone marrow failure
  • Fanconi Anemia Type Q
  • Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage

Green ERCC4 in Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.18
Latest signed off version: v2.7 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Xeroderma pigmentosum, group F, 278760
  • Xeroderma pigmentosum, type F/Cockayne syndrome, 278760

Green ERCC4 in White matter disorders and cerebral calcification - narrow panel


Version 1.206
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Xeroderma pigmentosum, type F/Cockayne syndrome, OMIM:278760
    • XFE progeroid syndrome, OMIM:610965
    Tags
    • Q2_21_rating

    Green ERCC4 in Tumour predisposition - childhood onset

    Level 3: Childhood Tumours
    Level 2: Tumour syndromes
    Version 2.23
    Latest signed off version: v2.5 (4 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert List
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Fanconi anemia, complementation group Q, 615272
    • Xeroderma pigmentosum, type F/Cockayne syndrome, 278760
    • Fanconi anemia, complementation group Q, 615272
    • XFE progeroid syndrome, 610965
    • Xeroderma pigmentosum, group F, 278760

    Green ERCC4 in Limb disorders


    Version 2.65
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi anemia, complementation group Q, 615272
    • Radial Ray abnormality

    Green ERCC4 in Pigmentary skin disorders


    Version 1.16
    Latest signed off version: v1.4 (15 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F
    • XPF

    Red ERCC4 in Primary immunodeficiency


    Version 2.477
    Latest signed off version: v2.1 (24 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • IUIS Classification December 2019
    Phenotypes
    • Fanconi anemia, complementation group Q, 615272
    • Bone marrow failure
    • Fanconi Anemia Type Q
    • Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage

    Green ERCC4 in Cytopenias and congenital anaemias

    Level 3: Anaemias and red cell disorders
    Level 2: Haematological disorders
    Version 1.88

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Literature
    Phenotypes
    • Fanconi anemia, complementation group Q, 615272

    Green ERCC4 in Childhood solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.15

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Xeroderma Pigmentosa

    Green ERCC4 in Adult solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 2.14
    Latest signed off version: v2.2 (18 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Fanconi anemia, complementation group Q, 615272
    • Xeroderma pigmentosum, group F, 278760

    Green ERCC4 in Haematological malignancies cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 2.21
    Latest signed off version: v2.2 (18 Feb 2020)

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

    Green ERCC4 in Severe microcephaly

    Level 3: DNA repair disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.264
    Latest signed off version: v2.2 (2 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Other
    • Literature
    Phenotypes
    • Fanconi anemia, complementation group Q, 61527

    Green ERCC4 in Confirmed Fanconi anaemia or Bloom syndrome


    Version 1.13
    Latest signed off version: v1.7 (15 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • North West GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • Expert Review Green
    • Wessex and West Midlands GLH
    Phenotypes
    • Fanconi anemia, complementation group Q, 615272
    • 615272 Fanconi anemia, complementation group Q

    Green ERCC4 in Fetal anomalies


    Version 1.728
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • XFE PROGEROID SYNDROME
    • FANCONI ANEMIA, COMPLEMENTATION GROUP Q
    • PRIMORDIAL DWARFISM
    • XERODERMA PIGMENTOSUM, GROUP F
    • Xeroderma pigmentosum, group F, 278760

    Green ERCC4 in DDG2P


    Version 2.49
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • PRIMORDIAL DWARFISM 615272
    • XFE PROGEROID SYNDROME 610965
    • XERODERMA PIGMENTOSUM, GROUP F 278760
    • FANCONI ANEMIA, COMPLEMENTATION GROUP Q 615272
    Tags
    • watchlist

    Red ERCC4 in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.199
    Latest signed off version: v2.5 (13 Feb 2020)

    review Not set
    Sources
    • Expert

    Red ERCC4 in Anophthalmia or microphthalmia

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.42

    review Not set
    Sources
    • UKGTN

    Green ERCC4 in Growth failure in early childhood


    Version 1.85
    Latest signed off version: v1.4 (3 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Fanconi anemia, complementation group Q, 615272
    • 615272 Fanconi anemia, complementation group Q

    Red ERCC4 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1367
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Xeroderma pigmentosum, group F, 278760
    • XFE progeroid syndrome, 610965
    • Fanconi anemia, complementation group Q, 615272
    • Xeroderma pigmentosum, type F/Cockayne syndrome, 278760

    Amber ERCC4 in Hereditary ataxia - adult onset


    Version 2.88
    Latest signed off version: v2.13 (6 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Xeroderma pigmentosum, group F OMIM:278760
    • xeroderma pigmentosum group F MONDO:0010215
    Tags
    • Q2_21_rating

    Red ERCC4 in Structural eye disease


    Version 1.83
    Latest signed off version: v1.3 (4 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F, 278760

    Green ERCC4 in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Xeroderma pigmentosum, group F, 278760
    • Fanconi anemia, complementation group Q, 615272
    • XFE progeroid syndrome, 610965
    • Xeroderma pigmentosum, type F/Cockayne syndrome, 278760