Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
Gene: ERCC1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment on list classification: Many publications regarding the association with variants within this gene and cancer prognosis/drug response.Created: 24 Nov 2016, 5:33 p.m.
Reports of association with mild UV-sensitivity.
(see PMID and Imoto, K., et al (2007) Patients with defects in the interacting nucleotide excision repair proteins ERCC1 or XPF show xeroderma pigmentosum with late onset severe neurological degeneration. J. Invest. Derm. 127: S92 only).Created: 27 Jan 2016, 2:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebrooculofacioskeletal syndrome 4
Publications
28/Nov/2016: Panel combined and revised due to external and internal review.
This gene has been classified as Green List (High Evidence).
Publications for ERCC1 were set to 23623389 - homozygous missense variant reported in a patient with Cockayne syndrome; 17273966 - ERCC1 deficiency in a patient with cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure
This gene has been classified as Amber List (Moderate Evidence).
Publications for ERCC1 were set to 23623389 - homozygous missense variant reported in a patient with Cockayne syndrome; 17273966 - ERCC1 deficiency in a patient with cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure;
ERCC1 was added to Cockayne and Xeroderma Pigmentosum-like disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN
ERCC1 was created by ellenmcdonagh