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  2. Fetal anomalies
  3. ERCC4
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Fetal anomalies

Gene: ERCC4

Green List (high evidence)
ERCC4 (ERCC excision repair 4, endonuclease catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000175595
EnsemblGeneIds (GRCh37): ENSG00000175595
OMIM: 133520, Gene2Phenotype
ERCC4 is in 24 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: 4 Apr 2019, 2:03 p.m.
Removed watchlist tag following clinical review by Anna de Burca.
Created: 7 Jan 2019, 10:14 a.m.
Comment on list classification: Updated rating from Amber to Green following email correspondance from Anna de Burca. Originally assigned an Amber rating because of different PAGE/DDG2P ratings for different disorders. Anna notes that ERCC4 is green on congenital anaemias panel for XP/progeroid syndrome and therefore Green rating is probably appropriate for Fetal anomalies panel also. Confirmed DD-G2P rating for XERODERMA PIGMENTOSUM, GROUP F.
Created: 7 Jan 2019, 10:13 a.m.
'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Created: 8 Nov 2018, 8:59 p.m.
In the original PAGE file: rated as Probable for FANCONI ANEMIA, COMPLEMENTATION GROUP Q, PRIMORDIAL DWARFISM, and XFE PROGEROID SYNDROME, and rated as Confirmed for XERODERMA PIGMENTOSUM, GROUP F.
Created: 8 Nov 2018, 4:45 p.m.
Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.161

History Filter Activity

7 Jan 2019, Gel status: 3

Removed Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist was removed from gene: ERCC4.

7 Jan 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: ERCC4 were changed from XFE PROGEROID SYNDROME; FANCONI ANEMIA, COMPLEMENTATION GROUP Q; PRIMORDIAL DWARFISM; XERODERMA PIGMENTOSUM, GROUP F to XFE PROGEROID SYNDROME; FANCONI ANEMIA, COMPLEMENTATION GROUP Q; PRIMORDIAL DWARFISM; XERODERMA PIGMENTOSUM, GROUP F; Xeroderma pigmentosum, group F, 278760

7 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: ercc4 has been classified as Green List (High Evidence).

8 Nov 2018, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: ERCC4.

8 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes XERODERMA PIGMENTOSUM, GROUP F for gene: ERCC4

8 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes XFE PROGEROID SYNDROME for gene: ERCC4

8 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes PRIMORDIAL DWARFISM for gene: ERCC4

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: ERCC4 was added gene: ERCC4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC4 were set to FANCONI ANEMIA, COMPLEMENTATION GROUP Q