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Hair disorders

Gene: ERCC2

Green List (high 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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic inactivation of XPD protein, a nucleotide excision repair (NER) signaling pathway component encoded by ERCC2 gene, has been associated with several defective DNA repair phenotypes, including xeroderma pigmentosum, photosensitive trichothiodystrophy, and cerebro-oculo-facio-skeletal syndrome.
Created: 18 Apr 2021, 8:02 a.m. | Last Modified: 18 Apr 2021, 8:02 a.m.
Panel Version: 0.7213

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebrooculofacioskeletal syndrome 2, MIM# 610756; MONDO:0012553; Trichothiodystrophy 1, photosensitive, MIM# 601675; MONDO:0011125; Xeroderma pigmentosum, group D, MIM# 278730; MONDO:0010212

Publications

Created: 18 Apr 2021, 8:02 a.m.
Last Modified: 18 Apr 2021, 8:02 a.m.
Panel version: Imported from Mendeliome panel version 0.7213

History Filter Activity

28 Jul 2020, Gel status: 3

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 Hair disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC2 were set to 31332722 Phenotypes for gene: ERCC2 were set to Trichothiodystrophy 1, photosensitive, 601675