ERCC2

ERCC excision repair 2, TFIIH core complex helicase subunit
OMIM: 126340, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Red ERCC2 in COVID-19 research Level 2: Viral research Version 1.146	review	Unknown	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 2: Dermatology Version 3.7 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Xeroderma pigmentosum, group D, 278730 Trichothiodystrophy, 601675
Amber ERCC2 in White matter disorders and cerebral calcification - narrow panel Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber Phenotypes Trichothiodystrophy 1, photosensitive, OMIM:601675
Green ERCC2 in Childhood solid tumours Level 2: Cancer susceptibility Version 5.9 Latest signed off version: v5.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert List Phenotypes Xeroderma pigmentosum, group D, 278730
Green ERCC2 in Bilateral congenital or childhood onset cataracts Level 2: Ophthalmology Version 7.6 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	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 Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	Unknown	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 1.186	review	BIALLELIC, autosomal or pseudoautosomal	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 1.30	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Xeroderma Pigmentosa
Green ERCC2 in Adult solid tumours cancer susceptibility Level 2: Cancer susceptibility Version 2.35 Latest signed off version: v2.2 (18 Feb 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Xeroderma pigmentosum, group D, 278730
Green ERCC2 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	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 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	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 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Expert
Red ERCC2 in Anophthalmia or microphthalmia Level 3: Ocular malformations Level 2: Ophthalmological disorders Version 1.56	review	Not set	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 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	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 Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	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 Level 2: Cancer susceptibility Version 1.82 Latest signed off version: v1.2 (18 Feb 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber Expert list Phenotypes Sarcoma, MONDO:0005089