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DDG2P

Gene: ERCC6

Green List (high evidence)

ERCC6 (ERCC excision repair 6, chromatin remodeling factor)
EnsemblGeneIds (GRCh38): ENSG00000225830
EnsemblGeneIds (GRCh37): ENSG00000225830
OMIM: 609413, Gene2Phenotype
ERCC6 is in 23 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed (for all listed disorders).
Created: 19 Nov 2018, 11:29 a.m.

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes UV-SENSITIVE SYNDROME 609413 for gene: ERCC6 Publications for gene ERCC6 were changed from 18628313; 10739753; 20456449 to 7264357

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 1 214150 for gene: ERCC6 Publications for gene ERCC6 were changed from 10196384; 9443879; 18446857 to 18628313; 10739753; 20456449

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes COCKAYNE SYNDROME TYPE B 133540 for gene: ERCC6 Publications for gene ERCC6 were changed from to 10196384; 9443879; 18446857

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: ERCC6 was added gene: ERCC6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC6 were set to DE SANCTIS-CACCHIONE SYNDROME 278800