Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

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

Ee Ming Wong (Victorian Clinical Genetics Services)

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.
- Severe, early onset of all three phenotypes have been reported
- Variable expressivity has been reported for Xeroderma pigmentosum, group D, MIM# 278730 where individuals can present with or without mild or severe neurologic abnormalities (GeneReviews)
- OMIM: The location of variants (mutagenic pattern) is consistent in determining the phenotype. Variants shared by both phenotypes are functionally null alleles, and the second / compound heterozygous variant then determines the phenotype. Changes at p.Arg683 are clearly associated with XP, whereas p.Arg112His, p.Arg722Trp, and changes at p.Arg658 are associated with TTD.
Created: 16 Sep 2024, 10:52 p.m. | Last Modified: 16 Sep 2024, 11:30 p.m.
Panel Version: 1.304

Phenotypes
Cerebrooculofacioskeletal syndrome 2, MIM# 610756; Trichothiodystrophy 1, photosensitive, MIM# 601675; Xeroderma pigmentosum, group D, MIM# 278730

Publications

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

History Filter Activity

18 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: ercc2 has been classified as Green List (High Evidence).

18 Sep 2024, Gel status: 3

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: ERCC2 were changed from Cerebrooculofacioskeletal syndrome 2, 610756 (3) to Cerebrooculofacioskeletal syndrome 2, MIM# 610756; Trichothiodystrophy 1, photosensitive, MIM# 601675; Xeroderma pigmentosum, group D, MIM# 278730

18 Sep 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: ERCC2 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Cerebrooculofacioskeletal syndrome 2, 610756 (3) for gene: ERCC2

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ERCC2 was added gene: ERCC2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC2 were set to Cerebrooculofacioskeletal syndrome 2, 610756 (3)