ERCC8

Red ERCC8 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 A, 216400UV-sensitive syndrome 2, 614621

Green ERCC8 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.59

Sources

• Expert Review Green
• Emory Genetics Laboratory

Phenotypes

• cockayne

Green ERCC8 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
• Radboud University Medical Center, Nijmegen
• Illumina TruGenome Clinical Sequencing Services
• Eligibility statement prior genetic testing
• UKGTN

Phenotypes

• Cockayne syndrome, type A
• Cockayne syndrome phenotype and UV-sensitive syndrome
• PMID: 26204423

Green ERCC8 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

• PMID: 26204423
• UV-sensitive syndrome
• Cockayne syndrome phenotype and UV-sensitive syndrome
• Cockayne syndrome, type A
• General Leukodystrophy & Mitochondrial Leukoencephalopathy
• Cockayne Syndrome

Green ERCC8 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 A MIMID
• UV-sensitive syndrome 2
• confirmed DD gene for Cockayne Syndrome Type A

Green ERCC8 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 ERCC8 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.22
Latest signed off version: v5.0 (22 Mar 2023)

Sources

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

Phenotypes

• Cockayne syndrome, type A 216400

Green ERCC8 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.68
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review Green
• Other

Phenotypes

• Cockayne syndrome, type A, 216400 (Microcephaly)

Green ERCC8 in Fetal anomalies

Version 3.157
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• COCKAYNE SYNDROME TYPE A

No list ERCC8 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 ERCC8 in DDG2P

Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• COCKAYNE SYNDROME TYPE A 216400

Green ERCC8 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 A, 216400
• Cockayne syndrome, Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities

Red ERCC8 in Anophthalmia or microphthalmia

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

Sources

• UKGTN

Red ERCC8 in Growth failure in early childhood

Version 3.89
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Red

Phenotypes

• cockayne

Green ERCC8 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.536
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

• Cockayne syndrome, type A, 216400UV-sensitive syndrome 2, 614621
• COCKAYNE SYNDROME TYPE A (CSA)

Green ERCC8 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.89
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review Green
• Expert list

Phenotypes

• Cockayne syndrome, type A 216400

Red ERCC8 in Structural eye disease

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

Sources

• NHS GMS
• Expert Review Red

Phenotypes

• Cockayne syndrome, type A, 216400

Amber ERCC8 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 A, 216400

Green ERCC8 in Severe Paediatric Disorders

Version 1.184

Sources

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

Phenotypes

• Cockayne syndrome, type A, 216400
• UV-sensitive syndrome 2, 614621