1. Genes and Genomic Entities
  2. ERCC5

ERCC5

ERCC excision repair 5, endonuclease
OMIM: 133530, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels
Green ERCC5 in Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Xeroderma pigmentosum, group G, 278780
  • Xeroderma pigmentosum, group G/Cockayne syndrome, 278780
Amber ERCC5 in White matter disorders and cerebral calcification - narrow panel


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    Phenotypes
    • Cerebrooculofacioskeletal syndrome 3 OMIM:616570
    • Xeroderma pigmentosum, group G/Cockayne syndrome OMIM:278780
    Green ERCC5 in Childhood solid tumours

    Level 3: Childhood Tumours
    Level 2: Tumour syndromes
    Version 4.18
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert List
    Phenotypes
    • Xeroderma pigmentosum, group G, 278780
    Green ERCC5 in Childhood solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.27

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Xeroderma Pigmentosa
    Green ERCC5 in Adult solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 2.29
    Latest signed off version: v2.2 (18 Feb 2020)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Xeroderma pigmentosum, group G, 278780
    Green ERCC5 in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.3
    Latest signed off version: v6.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cerebrooculofacioskeletal syndrome 3, OMIM:616570
    • Cerebrooculofacioskeletal syndrome 3, MONDO:0014696
    Amber ERCC5 in Severe microcephaly

    Level 3: DNA repair disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 5.7
    Latest signed off version: v5.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • Literature
    Phenotypes
    • Cerebrooculofacioskeletal syndrome 3, 616570 (Microcephaly)
    • Xeroderma pigmentosum, group G/Cockayne syndrome, 278780
    Green ERCC5 in Fetal anomalies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Cerebrooculofacioskeletal syndrome 3, OMIM:616570
    • Cerebrooculofacioskeletal syndrome 3, MONDO:0014696
    Green ERCC5 in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP G 278780
    Red ERCC5 in Monogenic hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.41
    Latest signed off version: v4.39 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Expert
    Red ERCC5 in Anophthalmia or microphthalmia

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.51

    		review Not set
    Sources
    • UKGTN
    Green ERCC5 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Xeroderma pigmentosum, group G, 278780Xeroderma pigmentosum, group G/Cockayne syndrome, 278780
    • XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP G (XP-G)
    Red ERCC5 in Structural eye disease


    Version 3.79
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Xeroderma Pigmentosum, group G (includes microphthalmia and/or cataract), 278780
    • Cerebrooculofacioskeletal syndrome 3, 616570
    Green ERCC5 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cerebrooculofacioskeletal syndrome 3, 616570
    • Xeroderma pigmentosum, group G/Cockayne syndrome, 278780
    • Xeroderma pigmentosum, group G, 278780