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Brain Calcification

Gene: ERCC5

Red List (low evidence)
ERCC5 (ERCC excision repair 5, endonuclease)
EnsemblGeneIds (GRCh38): ENSG00000134899
EnsemblGeneIds (GRCh37): ENSG00000134899
OMIM: 133530, Gene2Phenotype
ERCC5 is in 18 panels

1 review

Yetong Chen (University of Melbourne)

Red List (low evidence)

PMID 26884178 reports 2 siblings with the same ERCC5 variant who developed bilateral globus pallidus and posterior periventricular white matter calcification.
Sources: Expert list
Created: 4 Apr 2023, 12:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Xeroderma pigmentosum, group G; Cockayne syndrome, MIM# 278780

Publications

Created: 4 Apr 2023, 12:52 a.m.

Panel version: 1.43

History Filter Activity

4 Apr 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ercc5 has been classified as Red List (Low Evidence).

4 Apr 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ercc5 has been classified as Red List (Low Evidence).

4 Apr 2023, Gel status: 0

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

Yetong Chen (University of Melbourne)

gene: ERCC5 was added gene: ERCC5 was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC5 were set to 20301571; 26884178 Phenotypes for gene: ERCC5 were set to Xeroderma pigmentosum, group G; Cockayne syndrome, MIM# 278780 Review for gene: ERCC5 was set to RED