ERCC2

Red ERCC2 in COVID-19 research

Level 2: Viral research
Version 1.142

Sources

• Expert Review Red
• London North GLH
• NHS GMS
• Other
• North West GLH
• Victorian Clinical Genetics Services
• London North GLH
• NHS GMS
• North West GLH
• Victorian Clinical Genetics Services
• Expert Review Red
• Other

Phenotypes

• Combined immunodeficiency (CID) in a child affected by trichothiodystrophy (TTD)
• CD4 + lymphopenia

Green ERCC2 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
• UKGTN
• Radboud University Medical Center, Nijmegen
• Illumina TruGenome Clinical Sequencing Services

Phenotypes

• Xeroderma pigmentosum, group D, 278730
• Trichothiodystrophy, 601675

Amber ERCC2 in White matter disorders and cerebral calcification - narrow panel

Version 4.1
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

Sources

• NHS GMS
• Expert Review Amber

Phenotypes

• Trichothiodystrophy 1, photosensitive, OMIM:601675

Green ERCC2 in Childhood solid tumours

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 4.18
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review Green
• Expert List

Phenotypes

• Xeroderma pigmentosum, group D, 278730

Green ERCC2 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
• Expert list

Phenotypes

• Cerebrooculofacioskeletal syndrome 2
• Trichothiodystrophy
• CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2
• TRICHOTHIODYSTROPHY PHOTOSENSITIVE

Red ERCC2 in Primary immunodeficiency or monogenic inflammatory bowel disease

Version 5.1
Latest signed off version: v5.0 (1 May 2024)

Sources

• London North GLH
• NHS GMS
• North West GLH
• Victorian Clinical Genetics Services
• Expert Review Red
• Other

Phenotypes

• Combined immunodeficiency (CID) in a child affected by trichothiodystrophy (TTD)
• CD4 + lymphopenia

Red ERCC2 in Inherited white matter disorders

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

Sources

• Expert Review Red
• Literature

Green ERCC2 in Childhood solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.27

Sources

• Expert Review Green
• Expert list

Phenotypes

• Xeroderma Pigmentosa

Green ERCC2 in Adult solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.29
Latest signed off version: v2.2 (18 Feb 2020)

Sources

• NHS GMS
• Expert Review Green

Phenotypes

• Xeroderma pigmentosum, group D, 278730

Green ERCC2 in Fetal anomalies

Version 4.1
Latest signed off version: v4.0 (1 May 2024)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP D
• CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2
• TRICHOTHIODYSTROPHY PHOTOSENSITIVE

Green ERCC2 in DDG2P

Version 4.1
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP D 278730
• CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2 610756
• TRICHOTHIODYSTROPHY PHOTOSENSITIVE 601675

Red ERCC2 in Monogenic hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.40
Latest signed off version: v4.39 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert

Red ERCC2 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

Phenotypes

• Xeroderma pigmentosum, group D, 278730Trichothiodystrophy, 601675Cerebrooculofacioskeletal syndrome 2, 610756

Green ERCC2 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.1
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

Sources

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

Phenotypes

• Xeroderma pigmentosum, group D, 278730Trichothiodystrophy, 601675Cerebrooculofacioskeletal syndrome 2, 610756
• CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2 (COFS2)

Red ERCC2 in Structural eye disease

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

Sources

• NHS GMS
• Expert Review Red

Phenotypes

• TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, 601675
• Xeroderma pigmentosum, group D, 278730
• Trichothiodystrophy, 601675
• Cerebrooculofacioskeletal syndrome 2, 610756

Amber ERCC2 in Sarcoma susceptibility

Version 1.81
Latest signed off version: v1.2 (18 Feb 2020)

Sources

• NHS GMS
• Expert Review Amber
• Expert list

Phenotypes

• Sarcoma, MONDO:0005089

Green ERCC2 in Severe Paediatric Disorders

Version 1.184

Sources

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

Phenotypes

• ?Cerebrooculofacioskeletal syndrome 2, 610756
• Trichothiodystrophy 1, photosensitive, 601675
• Xeroderma pigmentosum, group D, 278730