ERCC5

ERCC excision repair 5, endonuclease
OMIM: 133530, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green ERCC5 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 G, 278780 Xeroderma pigmentosum, group G/Cockayne syndrome, 278780
Amber ERCC5 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 Cerebrooculofacioskeletal syndrome 3 OMIM:616570 Xeroderma pigmentosum, group G/Cockayne syndrome OMIM:278780
Green ERCC5 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 G, 278780
Green ERCC5 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 ERCC5 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 G, 278780
Green ERCC5 in Arthrogryposis Level 2: Neurology Version 9.24 Latest signed off version: v9.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebrooculofacioskeletal syndrome 3, OMIM:616570 Cerebrooculofacioskeletal syndrome 3, MONDO:0014696
Amber ERCC5 in Severe microcephaly Level 2: Neurology Version 8.31 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Literature Phenotypes Cerebrooculofacioskeletal syndrome 3, 616570 (Microcephaly) Xeroderma pigmentosum, group G/Cockayne syndrome, 278780
Green ERCC5 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 Cerebrooculofacioskeletal syndrome 3, OMIM:616570 Cerebrooculofacioskeletal syndrome 3, MONDO:0014696
Green ERCC5 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 G 278780
Red ERCC5 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 ERCC5 in Anophthalmia or microphthalmia Level 3: Ocular malformations Level 2: Ophthalmological disorders Version 1.56	review	Not set	Sources UKGTN
Green ERCC5 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 G, 278780Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP G (XP-G)
Red ERCC5 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 Xeroderma Pigmentosum, group G (includes microphthalmia and/or cataract), 278780 Cerebrooculofacioskeletal syndrome 3, 616570