ERCC5

ERCC excision repair 5, endonuclease
OMIM: 133530, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green ERCC5 in Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.8

Component of the following Super Panels:

  • Merge for White matter disorders and cerebral calcification - narrow panel v1.51
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    Phenotypes
    • Xeroderma pigmentosum, group G, 278780
    • Xeroderma pigmentosum, group G/Cockayne syndrome, 278780

    Green ERCC5 in White matter disorders and cerebral calcification - narrow panel


    Version 1.9

    Component of the following Super Panels:

  • White matter disorders - childhood onset v4.229
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Xeroderma pigmentosum, group G, 278780
    • Xeroderma pigmentosum, group G/Cockayne syndrome, 278780

    Green ERCC5 in Tumour predisposition - childhood onset

    Level 3: Childhood Tumours
    Level 2: Tumour syndromes
    Version 1.36

    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 1.6

    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 1.7

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

    Red ERCC5 in Severe microcephaly

    Level 3: DNA repair disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.74

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

    Green ERCC5 in Fetal anomalies


    Version 0.346

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP G

    Green ERCC5 in DDG2P


    Version 1.148

    Component of the following Super Panels:

  • Paediatric disorders v4.397
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP G 278780

    Red ERCC5 in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.4

    review Not set
    Sources
    • Expert

    Red ERCC5 in Anophthalmia or microphthalmia

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.21

    Component of the following Super Panels:

  • Merge for Structural eye disease v2.0
  • review Not set
    Sources
    • UKGTN

    Green ERCC5 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.1098

    Component of the following Super Panels:

  • Paediatric disorders v4.397
  • White matter disorders - childhood onset v4.229
  • Hypotonic infant with a likely central cause v3.1049
  • 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 0.95

    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