PanelApp
  1. Genes and Genomic Entities
  2. ERCC6

ERCC6

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

24 panels

Panel Reviews Mode of inheritance Details
24 panels

Green ERCC6 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.427

Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green ERCC6 in Blepharophimosis


    Level 2: Ophthalmological disorders
    Version 1.3

    		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 1.99

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews 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 0.375

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green ERCC6 in Chromosome Breakage Disorders


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.24

    		1 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 1.25

    		1 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 1.3512

    		1 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 1.357

    		1 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 1.10

    		1 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 0.565

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green ERCC6 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.594

    		0 reviews 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 1.410

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Cockayne spectrum with or without cerebrooculofacioskeletal syndrome MONDO:0100506

    Green ERCC6 in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.333

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  0 reviews 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 1.40

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews 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 0.234

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  2 reviews 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 0.110

    		0 reviews 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 0.388

    		1 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

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

    Green ERCC6 in Growth failure


    Version 1.83

    		1 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 1.465

    		2 reviews 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 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Cockayne spectrum with or without cerebrooculofacioskeletal syndrome MONDO:0100506

    Red ERCC6 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 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 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    • Mackenzie's Mission
    Phenotypes
    • Cockayne spectrum with or without cerebrooculofacioskeletal syndrome MONDO:0100506

    Green ERCC6 in Infertility and Recurrent Pregnancy Loss


    Version 1.50

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Premature ovarian failure 11, MIM# 616946