Inherited white matter disorders

Gene: ERCC2

Red List (low evidence)

ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit)
EnsemblGeneIds (GRCh38): ENSG00000104884
EnsemblGeneIds (GRCh37): ENSG00000104884
OMIM: 126340, Gene2Phenotype
ERCC2 is in 15 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene is awaiting curator evaluation and rating.
Created: 19 Dec 2018, 1:02 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

White matter abnormalities are part of the phenotype.
Created: 23 Jul 2018, 11:43 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

  • MIM#601675

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

19 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ercc2 has been classified as Red List (Low Evidence).

23 Jul 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

ERCC2 was added to Inherited white matter disorders panel. Sources: Literature

23 Jul 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

ERCC2 was created by Zornitza Stark