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  2. Fetal anomalies
  3. ERCC3
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Fetal anomalies

Gene: ERCC3

Green List (high evidence)
ERCC3 (ERCC excision repair 3, TFIIH core complex helicase subunit)
EnsemblGeneIds (GRCh38): ENSG00000163161
EnsemblGeneIds (GRCh37): ENSG00000163161
OMIM: 133510, Gene2Phenotype
ERCC3 is in 14 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 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: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B and Confirmed for TRICHOTHIODYSTROPHY PHOTOSENSITIVE.
Created: 11 Dec 2018, 9:04 a.m.
Created: 11 Dec 2018, 9:04 a.m.

Panel version: 0.134

History Filter Activity

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes TRICHOTHIODYSTROPHY PHOTOSENSITIVE for gene: ERCC3

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: ERCC3 was added gene: ERCC3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC3 were set to XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B