Leukodystrophy - paediatric
Gene: ERCC3
ERCC3 (ERCC excision repair 3, TFIIH core complex helicase subunit)
EnsemblGeneIds (GRCh38): ENSG00000163161
EnsemblGeneIds (GRCh37): ENSG00000163161
OMIM: 133510, Gene2Phenotype
ERCC3 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000163161
EnsemblGeneIds (GRCh37): ENSG00000163161
OMIM: 133510, Gene2Phenotype
ERCC3 is in 15 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
White matter changes have been reported in Trichothiodystrophy cases, but no neurological findings have been reported for the subtype of the condition caused by ERCC3.
Sources: Expert listCreated: 18 Jan 2020, 4:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trichothiodystrophy 2, photosensitive 616390
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Phenotypes
-
- Trichothiodystrophy 2, photosensitive 616390
- OMIM
- 133510
- Clinvar variants
- Variants in ERCC3
- Penetrance
- None
- 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
18 Jan 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ERCC3 was added gene: ERCC3 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC3 were set to Trichothiodystrophy 2, photosensitive 616390 Review for gene: ERCC3 was set to RED