ERCC3

ERCC excision repair 3, TFIIH core complex helicase subunit
OMIM: 133510, ClinGen, DECIPHER

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Red ERCC3 in Brain Calcification Level 2: Neurology and neurodevelopmental disorders Version 1.99 Component of the following Super Panels: Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Xeroderma pigmentosum, group B, MIM# 610651
Green ERCC3 in Cataract Level 2: Ophthalmological disorders Version 0.373	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green ERCC3 in Chromosome Breakage Disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.21	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Trichothiodystrophy 2, photosensitive, MIM# 616390 Xeroderma pigmentosum, group B 61, MIM#0651
Red ERCC3 in Ichthyosis Level 2: Dermatological disorders Version 1.11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Trichothiodystrophy 2, photosensitive MIM#616390
Green ERCC3 in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Trichothiodystrophy 2, photosensitive, MIM# 616390 Xeroderma pigmentosum, group B 61, MIM#0651
Green ERCC3 in Cancer Predisposition_Paediatric Level 2: Cancer Version 0.131	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green ERCC3 in Photosensitivity Syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 1.8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Trichothiodystrophy 2, photosensitive, MIM# 616390 Xeroderma pigmentosum, group B 61, MIM#0651
Green ERCC3 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.572	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green ERCC3 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes xeroderma pigmentosum group B MONDO:0012531
Red ERCC3 in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.318 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Trichothiodystrophy 2, photosensitive 616390
Green ERCC3 in Hair disorders Level 2: Dermatological disorders Version 0.71	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Trichothiodystrophy 2, photosensitive, 616390
Red ERCC3 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Xeroderma pigmentosum
Green ERCC3 in Growth failure Version 1.76	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Trichothiodystrophy 2, photosensitive, MIM# 616390 Xeroderma pigmentosum, group B 61, MIM#0651
Green ERCC3 in Fetal anomalies Version 1.313	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Xeroderma pigmentosum, group B 61, MIM#0651 Trichothiodystrophy 2, photosensitive, MIM# 616390
Red ERCC3 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Xeroderma pigmentosum