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Prepair 1000+

Gene: ERCC5

Green List (high evidence)

ERCC5 (ERCC excision repair 5, endonuclease)
EnsemblGeneIds (GRCh38): ENSG00000134899
EnsemblGeneIds (GRCh37): ENSG00000134899
OMIM: 133530, Gene2Phenotype
ERCC5 is in 18 panels

1 review

Melanie Marty (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association. Bi-allelic variants cause a range of DNA repair disorders. Variable severity and age of onset of manifestations, including antenatal presentation with arthrogryposis.
Created: 6 Mar 2025, 10:45 p.m. | Last Modified: 6 Mar 2025, 10:45 p.m.
Panel Version: 1.1568

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebrooculofacioskeletal syndrome 3, MIM# 616570; MONDO:0014696; Xeroderma pigmentosum, group G, MIM# 278780; MONDO:0010216

Publications

History Filter Activity

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Xeroderma pigmentosum, group G, 278780 (3) for gene: ERCC5

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: ERCC5 was added gene: ERCC5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC5 were set to Xeroderma pigmentosum, group G, 278780 (3)