1. Panels
  2. Leukodystrophy - paediatric
  3. ERCC2
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Leukodystrophy - paediatric

Gene: ERCC2

Amber List (moderate evidence)
ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit)
EnsemblGeneIds (GRCh38): ENSG00000104884
EnsemblGeneIds (GRCh37): ENSG00000104884
OMIM: 126340, Gene2Phenotype
ERCC2 is in 20 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

White matter changes have been reported as a feature of trichothiodystrophy, but has only been reported in association with ERCC2 in 1 case.
Sources: Expert list
Created: 18 Jan 2020, 4:35 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Trichothiodystrophy 1, photosensitive 601675

Publications

Created: 18 Jan 2020, 4:35 a.m.

Panel version: 0.15

History Filter Activity

18 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ercc2 has been classified as Amber List (Moderate Evidence).

18 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: ERCC2 was added gene: ERCC2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC2 were set to 29451896 Phenotypes for gene: ERCC2 were set to Trichothiodystrophy 1, photosensitive 601675 Review for gene: ERCC2 was set to AMBER