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  3. ERCC8
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Microcephaly

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 21 panels

1 review

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association, with microcephaly a reported feature.
(https://www.ncbi.nlm.nih.gov/books/NBK1342/)
Sources: Literature
Created: 2 Sep 2020, 7:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cockayne syndrome, type A, MIM# 216400

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 2 Sep 2020, 7:02 a.m.

Panel version: 0.325

History Filter Activity

2 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: ercc8 has been classified as Green List (High Evidence).

2 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: ercc8 has been classified as Green List (High Evidence).

2 Sep 2020, Gel status: 0

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

Belinda Chong (Victorian Clinical Genetics Services)

gene: ERCC8 was added gene: ERCC8 was added to Microcephaly. Sources: Literature Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC8 were set to 14661080; 21108394 Phenotypes for gene: ERCC8 were set to Cockayne syndrome, type A, MIM# 216400 Review for gene: ERCC8 was set to GREEN gene: ERCC8 was marked as current diagnostic