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Brain Calcification

Gene: ERCC3

Red List (low evidence)
ERCC3 (ERCC excision repair 3, TFIIH core complex helicase subunit)
EnsemblGeneIds (GRCh38): ENSG00000163161
EnsemblGeneIds (GRCh37): ENSG00000163161
OMIM: 133510, Gene2Phenotype
ERCC3 is in 15 panels

1 review

Yetong Chen (University of Melbourne)

Red List (low evidence)

PMID 20301571 reports 2 unrelated patients with ERCC3 variants who developed brain calcification.
Sources: Expert list
Created: 4 Apr 2023, 12:35 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Xeroderma pigmentosum, group B, MIM# 610651

Publications

Created: 4 Apr 2023, 12:35 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: ercc3 has been classified as Red List (Low Evidence).

4 Apr 2023, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ERCC3 were changed from to Xeroderma pigmentosum, group B, MIM# 610651

4 Apr 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ercc3 has been classified as Red List (Low Evidence).

4 Apr 2023, Gel status: 0

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

Yetong Chen (University of Melbourne)

gene: ERCC3 was added gene: ERCC3 was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC3 were set to 16947863; 20301571 Review for gene: ERCC3 was set to RED