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Arthrogryposis

Gene: ERCC8

Green List (high evidence)

ERCC8 (ERCC excision repair 8, CSA ubiquitin ligase complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000049167
EnsemblGeneIds (GRCh37): ENSG00000049167
OMIM: 609412, Gene2Phenotype
ERCC8 is in 18 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Arthrogryposis seen in severe Cockayne syndrome
Created: 5 Jan 2017, 2:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cockayne syndrome, type A 216400

Publications

History Filter Activity

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

5 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

5 Jan 2017, Gel status: 4

Upload gene information

Alice Gardham (Genomics England)

ERCC8 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services

5 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

5 Jan 2017, Gel status: 0

Created

Alice Gardham (Genomics England)

ERCC8 was created by agardham

5 Jan 2017, Gel status: 2

Added New Source

Alice Gardham (Genomics England)

ERCC8 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Literature