1. Panels
  2. Structural eye disease
  3. ERCC1
Genes in panel
Prev Next
STRs in panel
Prev Next

Structural eye disease

Gene: ERCC1

Amber List (moderate evidence)
ERCC1 (ERCC excision repair 1, endonuclease non-catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000012061
EnsemblGeneIds (GRCh37): ENSG00000012061
OMIM: 126380, Gene2Phenotype
ERCC1 is in 15 panels

2 reviews

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

I don't know

Jaspers: one case with microphthalmia
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebrooculofacioskeletal syndrome 4 (includes microphthalmia); 610758

Publications

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

Panel version: 0.76

Ivone Leong (Genomics England Curator)

I don't know

Promoted from red to amber based on the expert review provided.
Created: 25 Apr 2019, 10:04 a.m.
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Jaspers: one case with microphthalmia
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebrooculofacioskeletal syndrome 4 (includes microphthalmia), 610758

Publications

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

Panel version: 0.75

History Filter Activity

30 Sep 2025, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ERCC1 were changed from Cerebrooculofacioskeletal syndrome 4 (includes microphthalmia), 610758; Cerebrooculofacioskeletal syndrome 4, 610758 to Cerebrooculofacioskeletal syndrome 4, OMIM:610758

25 Apr 2019, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to ERCC1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

17 Apr 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ERCC1. Mode of inheritance for gene ERCC1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cerebrooculofacioskeletal syndrome 4 (includes microphthalmia), 610758 for gene: ERCC1 Publications for gene ERCC1 were changed from to 17273966

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: ERCC1 was added gene: ERCC1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: ERCC1 was set to Phenotypes for gene: ERCC1 were set to Cerebrooculofacioskeletal syndrome 4, 610758