ERCC6

Red ERCC6 in Hydroa vacciniforme

Level 3: Sun-exposure related conditions
Level 2: Dermatological disorders
Version 1.2

Sources

• Expert Review Red
• Radboud University Medical Center, Nijmegen

Phenotypes

• Cockayne syndrome, type B, 133540Cerebrooculofacioskeletal syndrome 1, 214150De Sanctis-Cacchione syndrome, 278800{Macular degeneration, age-related, susceptibility to 5}, 613761UV-sensitive syndrome 1, 600630{Lung cancer, susceptibility to}, 211980

Green ERCC6 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.65

Sources

• Expert Review Green
• Emory Genetics Laboratory

Phenotypes

• Cockayne syndrome, type B, 133540

Green ERCC6 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)

Sources

• Expert Review Green
• Other
• Illumina TruGenome Clinical Sequencing Services
• Eligibility statement prior genetic testing
• Radboud University Medical Center, Nijmegen
• UKGTN

Phenotypes

• Cockayne syndrome, type B
• Cockayne syndrome phenotype and UV-sensitive syndrome
• PMID: 26204423
• Cockayne syndrome B
• De Sanctis-Cacchione syndrome
• UV-sensitive syndrome 1

Red ERCC6 in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.147

Sources

• Emory Genetics Laboratory

Phenotypes

• Dystonia

Green ERCC6 in White matter disorders and cerebral calcification - narrow panel

Version 3.35
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• De Sanctis-Cacchione syndrome
• PMID: 26204423
• Cockayne syndrome
• UV-sensitive syndrome
• Cockayne syndrome phenotype and UV-sensitive syndrome
• Cockayne syndrome B
• UV-sensitive syndrome 1
• Intercranial Calcifications
• Cockayne syndrome, type B
• General Leukodystrophy & Mitochondrial Leukoencephalopathy

Green ERCC6 in Bilateral congenital or childhood onset cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.12
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Green
• UKGTN

Phenotypes

• Cockayne syndrome type B
• UV-sensitivesyndrome 1
• Cerebrooculofacioskeletalsyndrome 1

Red ERCC6 in Intracerebral calcification disorders

Level 3: Parenchymal brain disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.35

Sources

• Expert Review Red
• Emory Genetics Laboratory

Phenotypes

• Intercranial Calcifications

Green ERCC6 in Inherited white matter disorders

Level 3: White matter disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.180

Sources

• Expert Review Green
• Expert list

Phenotypes

• Cockayne syndrome
• UV-sensitive syndrome
• General Leukodystrophy & Mitochondrial Leukoencephalopathy

Green ERCC6 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.31
Latest signed off version: v5.0 (22 Mar 2023)

Sources

• Expert Review Green
• Radboud University Medical Center, Nijmegen
• UKGTN
• Illumina TruGenome Clinical Sequencing Services
• Expert list

Phenotypes

• Cockayne syndrome, type B 133540

Green ERCC6 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.82
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• NHS GMS
• Other
• Expert Review Green

Phenotypes

• Cockayne syndrome, type B, 133540 (Microcephaly)

Red ERCC6 in Adult onset neurodegenerative disorder

Version 4.47
Latest signed off version: v4.34 (31 Jul 2023)

Sources

• NHS GMS
• Yorkshire and North East GLH
• Expert Review Red

Phenotypes

• Dystonia

Green ERCC6 in Fetal anomalies

Version 3.164
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• UV-SENSITIVE SYNDROME
• CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 1
• COCKAYNE SYNDROME TYPE B
• DE SANCTIS-CACCHIONE SYNDROME

No list ERCC6 in Osteogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.5
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Removed
• Emory Genetics Laboratory

Phenotypes

• Proportionate Short Stature/Small for Gestational Age

Tags

• curated_removed

Green ERCC6 in DDG2P

Version 3.88
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• DE SANCTIS-CACCHIONE SYNDROME 278800
• UV-SENSITIVE SYNDROME 609413
• CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 1 214150
• COCKAYNE SYNDROME TYPE B 133540

Green ERCC6 in Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.477

Sources

• Expert Review Green
• NHS GMS
• London North GLH

Phenotypes

• Cockayne syndrome, type B, 133540
• Cockayne syndrome, Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities

Red ERCC6 in Anophthalmia or microphthalmia

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

Sources

• Expert Review Red
• Radboud University Medical Center, Nijmegen
• UKGTN
• Illumina TruGenome Clinical Sequencing Services

Phenotypes

• Cerebrooculofacioskeletal Syndrome
• Cockayne syndrome, type B, 133540Cerebrooculofacioskeletal syndrome 1, 214150De Sanctis-Cacchione syndrome, 278800{Macular degeneration, age-related, susceptibility to 5}, 613761UV-sensitive syndrome 1, 600630{Lung cancer, susceptibility to}, 211980

Red ERCC6 in Growth failure in early childhood

Version 3.94
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Red

Phenotypes

• Cockayne syndrome, type B, 133540

Green ERCC6 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Victorian Clinical Genetics Services
• Expert Review Green
• Radboud University Medical Center, Nijmegen

Phenotypes

• De Sanctis-Cacchione syndrome, OMIM:278800

Green ERCC6 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.90
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review Green

Phenotypes

• Cockayne syndrome, type B, OMIM:133540

Red ERCC6 in Structural eye disease

Version 3.77
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review Red

Phenotypes

• Cerebrooculofacioskeletal Syndrome
• Cerebrooculofacioskeletal syndrome 1, 214150
• Cockayne syndrome, type B, 133540
• De Sanctis-Cacchione syndrome, 278800
• {Macular degeneration, age-related, susceptibility to 5}, 613761
• UV-sensitive syndrome 1, 600630
• {Lung cancer, susceptibility to}, 211980

Red ERCC6 in Adult onset dystonia, chorea or related movement disorder

Version 3.18
Latest signed off version: v3.12 (31 Jul 2023)

Sources

• NHS GMS
• South West GLH
• Expert Review Red

Phenotypes

• Dystonia

Amber ERCC6 in Hereditary neuropathy or pain disorder

Version 3.94
Latest signed off version: v3.24 (15 May 2023)

Sources

• Expert Review Amber
• London North GLH
• NHS GMS
• NHS GMS
• London North GLH

Phenotypes

• Cockayne syndrome, Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities
• Cockayne syndrome, type B, 133540

Red ERCC6 in Childhood onset dystonia, chorea or related movement disorder

Version 3.77
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• South West GLH

Phenotypes

• Dystonia

Green ERCC6 in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Cerebrooculofacioskeletal syndrome 1, 214150
• UV-sensitive syndrome 1, 600630
• De Sanctis-Cacchione syndrome, 278800
• Cockayne syndrome, type B, 133540
• Premature ovarian failure 11, 616946