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  3. ERCC5
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Structural eye disease

Gene: ERCC5

Red List (low evidence)
ERCC5 (ERCC excision repair 5, endonuclease)
EnsemblGeneIds (GRCh38): ENSG00000134899
EnsemblGeneIds (GRCh37): ENSG00000134899
OMIM: 133530, Gene2Phenotype
ERCC5 is in 13 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

No evidence of involvement in eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Xeroderma Pigmentosum, group G (includes microphthalmia and/or cataract); Cerebrooculofacioskeletal syndrome 3; 278780; 616570

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). No evidence of involvement in eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Xeroderma Pigmentosum, group G (includes microphthalmia and/or cataract), 278780; Cerebrooculofacioskeletal syndrome 3, 616570

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.38

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ERCC5. Mode of inheritance for gene ERCC5 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Xeroderma Pigmentosum, group G (includes microphthalmia and/or cataract), 278780; Cerebrooculofacioskeletal syndrome 3, 616570 for gene: ERCC5

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: ERCC5 was added gene: ERCC5 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: ERCC5 was set to