ERCC1

ERCC excision repair 1, endonuclease non-catalytic subunit
OMIM: 126380, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green ERCC1 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 Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes xeroderma pigmentosum, MONDO:0019600 hepatorenal syndrome, MONDO:0001382
Amber ERCC1 in White matter disorders and cerebral calcification - narrow panel Level 2: Neurology Version 7.11 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 4, OMIM:610758
Amber ERCC1 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 Expert Review Amber NHS GMS Expert List Phenotypes xeroderma pigmentosum, MONDO:0019600 hepatorenal syndrome, MONDO:0001382 Tags dd_review Q3_25_promote_green
Amber ERCC1 in Cholestasis Level 2: Gastrohepatology Version 3.19 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes hepatorenal syndrome, MONDO:0001382 Tags Q3_25_promote_green
Green ERCC1 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 pigmentosum, MONDO:0019600 hepatorenal syndrome, MONDO:0001382
Red ERCC1 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 Expert Review Red NHS GMS Phenotypes hepatocellular carcinoma, MONDO:0007256
Amber ERCC1 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 Amber Literature Phenotypes Cerebrooculofacioskeletal syndrome 4, OMIM:610758 Tags Q3_25_promote_green
Green ERCC1 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 4, OMIM:610758
Green ERCC1 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 FANCONI ANEMIA 229154 CEREBROOCULOFACIOSKELETAL SYNDROME 4 610758
Red ERCC1 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
Amber ERCC1 in Paediatric disorders - additional genes Level 2: Developmental disorders Version 7.31 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cerebrooculofacioskeletal syndrome 4, OMIM:610758 hepatorenal syndrome, MONDO:0001382 Tags Q3_25_promote_green
Red ERCC1 in Anophthalmia or microphthalmia Level 3: Ocular malformations Level 2: Ophthalmological disorders Version 1.56	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cerebrooculofacioskeletal syndrome 4, OMIM:610758
Amber ERCC1 in Renal tubulopathies Level 2: Renal Version 5.11 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes hepatorenal syndrome, MONDO:0001382 Tags Q3_25_promote_green
Green ERCC1 in Intellectual disability Level 2: Developmental disorders Version 9.279 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 Expert Review Green Phenotypes Cerebrooculofacioskeletal syndrome 4, OMIM:610758
Amber ERCC1 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 Expert Review Amber NHS GMS Phenotypes Cerebrooculofacioskeletal syndrome 4, OMIM:610758