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Fetal anomalies

Gene: ERCC1

Green List (high evidence)

ERCC1 (ERCC excision repair 1, endonuclease non-catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000012061
EnsemblGeneIds (GRCh37): ENSG00000012061
OMIM: 126380, Gene2Phenotype
ERCC1 is in 12 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: IUGR amongst the phenotypes.
Created: 29 Apr 2019, 12:28 p.m.
DDG2P rating in original PAGE list: Confirmed for FANCONI ANEMIA and Confirme for CEREBROOCULOFACIOSKELETAL SYNDROME 4.
Created: 11 Dec 2018, 9:04 a.m.

History Filter Activity

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes CEREBROOCULOFACIOSKELETAL SYNDROME 4 for gene: ERCC1

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: ERCC1 was added gene: ERCC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ERCC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC1 were set to FANCONI ANEMIA