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DDG2P

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 21 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for XERODERMA PIGMENTOSUM, GROUP F.
Created: 28 Jan 2019, 2:29 p.m.
Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
Created: 19 Nov 2018, 1:48 p.m.
Multiple ratings in DD-G2P download: Rated confirmed for XERODERMA PIGMENTOSUM, GROUP F 278760. Rated probable for FANCONI ANEMIA, COMPLEMENTATION GROUP Q 615272, PRIMORDIAL DWARFISM 615272 and XFE PROGEROID SYNDROME 610965.
Created: 19 Nov 2018, 11:29 a.m.

History Filter Activity

29 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Multiple ratings in DD-G2P dow

28 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).

19 Nov 2018, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: ERCC4.

19 Nov 2018, Gel status: 2

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes XERODERMA PIGMENTOSUM, GROUP F 278760 for gene: ERCC4 Publications for gene ERCC4 were changed from 17183314 to 8797827; 3372781

19 Nov 2018, Gel status: 2

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes XFE PROGEROID SYNDROME 610965 for gene: ERCC4 Publications for gene ERCC4 were changed from 23623386 to 17183314

19 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes PRIMORDIAL DWARFISM 615272 for gene: ERCC4

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: ERCC4 was added gene: ERCC4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC4 were set to 23623386 Phenotypes for gene: ERCC4 were set to FANCONI ANEMIA, COMPLEMENTATION GROUP Q 615272