Hair disorders
Gene: ERCC3EnsemblGeneIds (GRCh38): ENSG00000163161
EnsemblGeneIds (GRCh37): ENSG00000163161
OMIM: 133510, Gene2Phenotype
ERCC3 is in 15 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Nucleotide excision repair disorder, variable severity.Created: 19 Apr 2021, 10:39 a.m. | Last Modified: 19 Apr 2021, 10:39 a.m.
Panel Version: 0.7221
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trichothiodystrophy 2, photosensitive, MIM# 616390; Xeroderma pigmentosum, group B 61, MIM#0651
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review Green
- Literature
- Victorian Clinical Genetics Services
- Phenotypes
-
- Trichothiodystrophy 2, photosensitive, 616390
- OMIM
- 133510
- Clinvar variants
- Variants in ERCC3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Chromosome Breakage Disorders
- Hair disorders
- Brain Calcification
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Cancer Predisposition_Paediatric
- Regression
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Ichthyosis
- Photosensitivity Syndromes
- Cataract
- Growth failure
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ERCC3 was added gene: ERCC3 was added to Hair disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC3 were set to 31332722 Phenotypes for gene: ERCC3 were set to Trichothiodystrophy 2, photosensitive, 616390