ERCC4

Panel	Reviews	Mode of inheritance	Details
Filter panels 21 panels
Green ERCC4 in Bone Marrow Failure Level 2: Haematological disorders Version 2.0	2 reviews	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 2.0	1 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 2.0	1 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 2.0	1 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 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green ERCC4 in Photosensitivity Syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 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 2.0	1 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 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green ERCC4 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Xeroderma pigmentosum, group F, MIM# 278760 MONDO:0010215
Green ERCC4 in Additional findings_Adult Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Fanconi anaemia, complementation group Q, MIM# 615272
Red ERCC4 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 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 Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green 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 1.0	0 reviews	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 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Xeroderma pigmentosum
Green ERCC4 in Growth failure Version 2.0	1 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 2.0	2 reviews	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 1.0	1 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 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission 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 Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 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 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Mackenzie's Mission 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 Hereditary Pigmentary Disorders Level 2: Dermatological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes xeroderma pigmentosum group F MONDO:0010215

ERCC4

21 panels

Green ERCC4 in Bone Marrow Failure

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Phenotypes

Green ERCC4 in Chromosome Breakage Disorders

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Phenotypes

Green ERCC4 in Mendeliome

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Phenotypes

Green ERCC4 in Microcephaly

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Phenotypes

Green ERCC4 in Cancer Predisposition_Paediatric

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Green ERCC4 in Photosensitivity Syndromes

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Phenotypes

Green ERCC4 in Radial Ray Abnormalities

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Phenotypes

Green ERCC4 in Regression

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Green ERCC4 in Deafness_IsolatedAndComplex

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Phenotypes

Green ERCC4 in Additional findings_Adult

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Phenotypes

Red ERCC4 in Intellectual disability syndromic and non-syndromic

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Phenotypes

Green ERCC4 in Ataxia

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Phenotypes

Green ERCC4 in Mackenzie's Mission_Reproductive Carrier Screening

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Phenotypes

Red ERCC4 in Additional findings_Paediatric

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Phenotypes

Green ERCC4 in Growth failure

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Phenotypes

Green ERCC4 in Fetal anomalies

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Phenotypes

Green ERCC4 in IBMDx study

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Phenotypes

Green ERCC4 in Prepair 1000+

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Phenotypes

Green ERCC4 in Genomic newborn screening: BabyScreen+

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Phenotypes

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Green ERCC4 in Prepair 500+

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Phenotypes

Green ERCC4 in Hereditary Pigmentary Disorders

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Phenotypes