ERCC4

ERCC excision repair 4, endonuclease catalytic subunit
OMIM: 133520, Gene2Phenotype

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Green ERCC4 in Bone Marrow Failure Level 2: Haematological disorders Version 1.114 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi anemia, complementation group Q, MIM# 615272
Green ERCC4 in Chromosome Breakage Disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.21	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Fanconi anemia, complementation group Q, MIM# 615272 MONDO:0014108 Xeroderma pigmentosum, group F, MIM# 278760 MONDO:0010215 XFE progeroid syndrome, MIM# 610965 MONDO:0012590
Green ERCC4 in Mendeliome Version 1.2374	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi anemia, complementation group Q, MIM# 615272 MONDO:0014108 Xeroderma pigmentosum, group F, MIM# 278760 MONDO:0010215 XFE progeroid syndrome, MIM# 610965 MONDO:0012590
Green ERCC4 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.301	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Fanconi anemia, complementation group Q (MIM#615272) Cockayne syndrome (MIM#278760)
Green ERCC4 in Cancer Predisposition_Paediatric Level 2: Cancer Version 0.131	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green ERCC4 in Photosensitivity Syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 1.8	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group Q, MIM# 615272 MONDO:0014108 Xeroderma pigmentosum, group F, MIM# 278760 MONDO:0010215 XFE progeroid syndrome, MIM# 610965 MONDO:0012590
Green ERCC4 in Radial Ray Abnormalities Level 2: Dysmorphic and congenital abnormality syndromes Version 1.15 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Fanconi aanemia, complementation group Q, MIM# 615272 MONDO:0014108
Green ERCC4 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.573	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red ERCC4 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Xeroderma pigmentosum, group F, MIM#278760 XFE progeroid syndrome, MIM# 610965
Green ERCC4 in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.20 Component of the following Super Panels: Ataxia_Superpanel Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cerebellar ataxia Xeroderma pigmentosum, group F, MIM# 278760
Green ERCC4 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fanconi anemia, complementation group Q, 615272 (3)
Red ERCC4 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 ERCC4 in Growth failure Version 1.76	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Fanconi anemia, complementation group Q, MIM# 615272 MONDO:0014108 XFE progeroid syndrome, MIM# 610965 MONDO:0012590
Green ERCC4 in Fetal anomalies Version 1.314	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group Q, MIM# 615272 MONDO:0014108 XFE progeroid syndrome, MIM# 610965
Green ERCC4 in IBMDx study Version 0.35	review	Unknown	Sources Expert Review Green IBMDx Study Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi anemia, complementation group Q, MIM# 615272
Green ERCC4 in Prepair 1000+ Level 2: Screening Version 1.1586	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fanconi anemia, complementation group Q, 615272 (3)
Green ERCC4 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene BeginNGS Phenotypes Fanconi anemia, complementation group Q, MIM# 615272 Tags treatable haematological
Green ERCC4 in Prepair 500+ Level 2: Screening Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fanconi anemia, complementation group Q, 615272 (3)