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  3. ERCC4
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Microcephaly

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

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Microcephaly is a well established feature in Cockayne syndrome
Sources: Literature
Created: 2 Sep 2020, 6:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia, complementation group Q (MIM#615272); Cockayne syndrome (MIM#278760)

Created: 2 Sep 2020, 6:51 a.m.

Panel version: 0.319

History Filter Activity

2 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

2 Sep 2020, Gel status: 0

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: ERCC4 was added gene: ERCC4 was added to Microcephaly. Sources: Literature Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC4 were set to Fanconi anemia, complementation group Q (MIM#615272); Cockayne syndrome (MIM#278760) Penetrance for gene: ERCC4 were set to unknown Review for gene: ERCC4 was set to GREEN