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  3. ERCC4
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Growth failure

Gene: ERCC4

Green List (high evidence)
ERCC4 (ERCC excision repair 4, endonuclease catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000175595
EnsemblGeneIds (GRCh37): ENSG00000175595
OMIM: 133520, Gene2Phenotype
ERCC4 is in 18 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Excision repair defect resulting in a range of phenotypes. Growth failure is a key feature of FA and of progeroid syndrome.
Created: 19 Apr 2021, 12:13 p.m. | Last Modified: 6 Aug 2021, 3:10 a.m.
Panel Version: 0.21

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia, complementation group Q, MIM# 615272; MONDO:0014108; XFE progeroid syndrome, MIM# 610965; MONDO:0012590

Publications

Created: 13 Sep 2020, 11:33 p.m.
Last Modified: 6 Aug 2021, 3:10 a.m.
Panel version: 0.21

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anemia, complementation group Q, MIM# 615272
  • MONDO:0014108
  • XFE progeroid syndrome, MIM# 610965
  • MONDO:0012590
OMIM
133520
Clinvar variants
Variants in ERCC4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ercc4 has been classified as Green List (High Evidence).

6 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ERCC4 were changed from 615272 Fanconi anemia, complementation group Q; Fanconi anemia, complementation group Q, 615272 to Fanconi anemia, complementation group Q, MIM# 615272; MONDO:0014108; XFE progeroid syndrome, MIM# 610965; MONDO:0012590

6 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ERCC4 were set to 23623386; 23623389; 24027083

19 Jul 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ERCC4 was added gene: ERCC4 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC4 were set to 23623386; 23623389; 24027083 Phenotypes for gene: ERCC4 were set to 615272 Fanconi anemia, complementation group Q; Fanconi anemia, complementation group Q, 615272