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  3. ERCC3
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Growth failure

Gene: ERCC3

Green List (high 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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Nucleotide excision repair disorder, variable severity, short stature associated with both disorders.
Sources: Expert Review
Created: 20 Aug 2021, 7:18 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Trichothiodystrophy 2, photosensitive, MIM# 616390; Xeroderma pigmentosum, group B 61, MIM#0651

Publications

Created: 20 Aug 2021, 7:18 a.m.

Panel version: 0.267

History Filter Activity

20 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ercc3 has been classified as Green List (High Evidence).

20 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ercc3 has been classified as Green List (High Evidence).

20 Aug 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ERCC3 was added gene: ERCC3 was added to Growth failure in early childhood. Sources: Expert Review Mode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC3 were set to 2167179; 10447254; 16947863; 9012405; 32557569; 27004399 Phenotypes for gene: ERCC3 were set to Trichothiodystrophy 2, photosensitive, MIM# 616390; Xeroderma pigmentosum, group B 61, MIM#0651 Review for gene: ERCC3 was set to GREEN