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 Blepharophimosis Level 2: Ophthalmological disorders Version 1.3	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Cerebrooculofacioskeletal syndrome 4, MIM# 610758
Green ERCC1 in Cholestasis Level 2: Gastroenterological disorders Version 1.4 Component of the following Super Panels: Liverome Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hepatorenal syndrome, MONDO:0001382, ERCC1-related
Green ERCC1 in Chromosome Breakage Disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.23	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebrooculofacioskeletal syndrome 4, MIM# 610758 MONDO:0012554
Green ERCC1 in Mendeliome Version 1.3098	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebrooculofacioskeletal syndrome 4, MIM# 610758 MONDO:0012554 Hepatorenal syndrome, MONDO:0001382, ERCC1-related
Green ERCC1 in Cancer Predisposition_Paediatric Level 2: Cancer Version 0.132	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green ERCC1 in Photosensitivity Syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Cerebrooculofacioskeletal syndrome 4, MIM# 610758
Green ERCC1 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.558	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green ERCC1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.585	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green ERCC1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.294	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Cerebrooculofacioskeletal syndrome 4, MIM# 610758 MONDO:0012554
Red ERCC1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Xeroderma pigmentosum
Green ERCC1 in Liver Failure_Paediatric Level 2: Gastroenterological disorders Version 1.26 Component of the following Super Panels: Liverome Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hepatorenal syndrome, MONDO:0001382, ERCC1-related
Green ERCC1 in Growth failure Version 1.81	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hepatorenal syndrome, MONDO:0001382, ERCC1-related
Green ERCC1 in Fetal anomalies Version 1.413	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Cerebrooculofacioskeletal syndrome 4, MIM# 610758 MONDO:0012554
Red ERCC1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.137	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Xeroderma pigmentosum
Green ERCC1 in Hereditary Pigmentary Disorders Level 2: Dermatological disorders Version 1.3	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes cerebrooculofacioskeletal syndrome 4 MONDO:0012554 Xeroderma pigmentosum