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  2. Anophthalmia or microphthalmia
  3. ERCC1
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Anophthalmia or microphthalmia

Gene: ERCC1

Red List (low 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

David FitzPatrick (University of Edinburgh)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Known expert review
Created: 10 May 2016, 11:41 a.m.
Created: 10 May 2016, 11:41 a.m.

Panel version: 0.4

History Filter Activity

1 Oct 2025, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ERCC1 were changed from Cerebrooculofacioskeletal syndrome 4, 610758 to Cerebrooculofacioskeletal syndrome 4, OMIM:610758

1 Oct 2025, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: ERCC1 was changed from to BIALLELIC, autosomal or pseudoautosomal

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

10 May 2016, Gel status: 2

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

ERCC1 was added to Anophthalmia/microphthalmiapanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

ERCC1 was added to Anophthalmia/microphthalmiapanel. Sources: UKGTN