PanelApp
  1. Genes and Genomic Entities
  2. ERCC5

ERCC5

ERCC excision repair 5, endonuclease
OMIM: 133530, Gene2Phenotype

19 panels

Panel Reviews Mode of inheritance Details
19 panels

Green ERCC5 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.419

Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cerebrooculofacioskeletal syndrome 3, MIM# 616570

    Green ERCC5 in Blepharophimosis


    Level 2: Ophthalmological disorders
    Version 1.3

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Cerebrooculofacioskeletal syndrome 3,MIM# 616570

    Red ERCC5 in Brain Calcification


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.99

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Xeroderma pigmentosum, group G
    • Cockayne syndrome, MIM# 278780

    Green ERCC5 in Chromosome Breakage Disorders


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.21

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cerebrooculofacioskeletal syndrome 3, MIM# 616570
    • MONDO:0014696
    • Xeroderma pigmentosum, group G, MIM# 278780
    • MONDO:0010216

    Green ERCC5 in Mendeliome


    Version 1.2656

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cerebrooculofacioskeletal syndrome 3, MIM# 616570 MONDO:0014696 Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780 MONDO:0010216

    Amber ERCC5 in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.316

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Cerebrooculofacioskeletal syndrome 3 MIM#616570

    Green ERCC5 in Cancer Predisposition_Paediatric


    Level 2: Cancer
    Version 0.131

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green ERCC5 in Photosensitivity Syndromes


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.9

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cerebrooculofacioskeletal syndrome 3, MIM# 616570
    • MONDO:0014696
    • Xeroderma pigmentosum, group G, MIM# 278780
    • MONDO:0010216

    Green ERCC5 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.545

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green ERCC5 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.581

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green ERCC5 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.174

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Cerebrooculofacioskeletal syndrome 3, MIM# 616570
    • MONDO:0014696
    • Xeroderma pigmentosum, group G, MIM# 278780
    • MONDO:0010216

    Green ERCC5 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Xeroderma pigmentosum, group G, 278780 (3)

    Green ERCC5 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Xeroderma pigmentosum

    Green ERCC5 in Growth failure


    Version 1.77

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Cerebrooculofacioskeletal syndrome 3, MIM# 616570
    • MONDO:0014696
    • Xeroderma pigmentosum, group G, MIM# 278780
    • MONDO:0010216

    Green ERCC5 in Fetal anomalies


    Version 1.370

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    • Genetic Health Queensland
    Phenotypes
    • Cerebrooculofacioskeletal syndrome 3, MIM# 616570
    • MONDO:0014696
    • Xeroderma pigmentosum, group G, MIM# 278780
    • MONDO:0010216

    Green ERCC5 in Prepair 1000+


    Level 2: Screening
    Version 2.13

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Cerebrooculofacioskeletal syndrome 3, MIM# 616570
    • MONDO:0014696
    • Xeroderma pigmentosum, group G, MIM# 278780
    • MONDO:0010216

    Red ERCC5 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.121

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Cerebrooculofacioskeletal syndrome 3, MIM# 616570 MONDO:0014696
    • Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780 MONDO:0010216

    Green ERCC5 in Prepair 500+


    Level 2: Screening
    Version 2.0

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Cerebrooculofacioskeletal syndrome 3, MIM# 616570
    • MONDO:0014696
    • Xeroderma pigmentosum, group G, MIM# 278780
    • MONDO:0010216

    Green ERCC5 in Hereditary Pigmentary Disorders


    Level 2: Dermatological disorders
    Version 1.3

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • xeroderma pigmentosum group G MONDO:0010216