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COVID-19 research

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 24 panels

2 reviews

Catherine Snow (Genomics England)

IUIS: categorised under bone marrow failure with immune deficiency - Fanconi Anemia section. Inheritance AR
Created: 4 May 2020, 5:27 p.m. | Last Modified: 4 May 2020, 5:27 p.m.
Panel Version: 0.179

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Relevance to COVID-19 unknown
Created: 27 Apr 2020, 2:35 p.m. | Last Modified: 27 Apr 2020, 2:35 p.m.
Panel Version: 0.163

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
xeroderma pigmentosum; Fanconi anaemia

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Green was added to ERCC4. Added phenotypes Fanconi anemia, complementation group Q, 615272; Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage; Fanconi Anemia Type Q; Bone marrow failure for gene: ERCC4 Rating Changed from Red List (low evidence) to Green List (high evidence)

1 Apr 2020, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: ERCC4 was added gene: ERCC4 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC4 were set to 32086639; 32048120 Phenotypes for gene: ERCC4 were set to Fanconi anemia, complementation group Q, 615272; Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage; Fanconi Anemia Type Q; Bone marrow failure