PanelApp (stage)
  1. Genes and Genomic Entities
  2. ERCC6

ERCC6

ERCC excision repair 6, chromatin remodeling factor
OMIM: 609413, Gene2Phenotype

23 panels

Panel Reviews Mode of inheritance Details
23 panels

Green ERCC6 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.411

Component of the following Super Panels:

  • Neuromuscular Superpanel

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

    Green ERCC6 in Blepharophimosis


    Level 2: Ophthalmological disorders
    Version 1.1

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Cerebrooculofacioskeletal syndrome 1, MIM# 214150

    Green ERCC6 in Brain Calcification


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.96

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cockayne syndrome, type B, MIM#133540

    Green ERCC6 in Cataract


    Level 2: Ophthalmological disorders
    Version 0.366

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

    Green ERCC6 in Chromosome Breakage Disorders


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.19

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cerebrooculofacioskeletal syndrome 1, MIM# 214150
    • MONDO:0008955
    • Cockayne syndrome, type B, MIM# 133540
    • MONDO:0019570
    • De Sanctis-Cacchione syndrome, MIM# 278800
    • MONDO:0010217
    • UV-sensitive syndrome 1, MIM# 600630
    • MONDO:0010909

    Green ERCC6 in Lipodystrophy_Lipoatrophy


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.17

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cockayne syndrome, type B, MIM# 133540

    Green ERCC6 in Mendeliome


    Version 1.1891

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cockayne syndrome, type B, MIM#133540
    • Cerebrooculofacioskeletal syndrome 1, MIM#214150
    • De Sanctis-Cacchione syndrome, MIM#278800

    Green ERCC6 in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.269

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cockayne syndrome, type B, MIM#133540
    • Cerebrooculofacioskeletal syndrome 1, MIM#214150
    • De Sanctis-Cacchione syndrome, MIM#278800

    Green ERCC6 in Photosensitivity Syndromes


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.8

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cerebrooculofacioskeletal syndrome 1, MIM# 214150
    • MONDO:0008955
    • Cockayne syndrome, type B, MIM# 133540
    • MONDO:0019570
    • De Sanctis-Cacchione syndrome, MIM# 278800
    • MONDO:0010217
    • UV-sensitive syndrome 1, MIM# 600630
    • MONDO:0010909

    Green ERCC6 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.522

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

    Green ERCC6 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.556

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

    Green ERCC6 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review Unknown
    Sources
    • Genetic Health Queensland
    • Expert Review Green

    Green ERCC6 in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.308

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Cockayne syndrome
    • UV-sensitive syndrome
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy

    Green ERCC6 in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.14

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Cockayne syndrome, type B MIM#133540

    Green ERCC6 in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 0.209

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cockayne syndrome, type B MIM#133540

    Green ERCC6 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
    • Cockayne syndrome, type B, 133540 (3)

    Amber ERCC6 in Primary Ovarian Insufficiency_Premature Ovarian Failure

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 0.328

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Royal Melbourne Hospital
    Phenotypes
    • Premature ovarian failure 11 616946

    Green ERCC6 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

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

    Green ERCC6 in Growth failure


    Version 1.76

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cerebrooculofacioskeletal syndrome 1, MIM# 214150
    • MONDO:0008955
    • Cockayne syndrome, type B, MIM# 133540
    • MONDO:0019570

    Green ERCC6 in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    Phenotypes
    • Cockayne syndrome, type B, MIM#133540
    • Cerebrooculofacioskeletal syndrome 1, MIM#214150
    • De Sanctis-Cacchione syndrome, MIM#278800

    Green ERCC6 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Cockayne syndrome, type B, 133540 (3)

    Red ERCC6 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Cerebrooculofacioskeletal syndrome 1, MIM# 214150 MONDO:0008955
    • Cockayne syndrome, type B, MIM# 133540 MONDO:0019570
    • De Sanctis-Cacchione syndrome, MIM# 278800 MONDO:0010217
    • UV-sensitive syndrome 1, MIM# 600630 MONDO:0010909

    Green ERCC6 in Prepair 500+


    Level 2: Screening
    Version 1.1

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Cockayne syndrome, type B, 133540 (3)