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Cataracts

Gene: ESCO2

Red List (low evidence)

ESCO2 (establishment of sister chromatid cohesion N-acetyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000171320
EnsemblGeneIds (GRCh37): ENSG00000171320
OMIM: 609353, Gene2Phenotype
ESCO2 is in 12 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Red List (low evidence)

Corneal opacities may be associated only with specific mutations. Clinical criteria include mesomelic shortening of the limbs and craniofacial abnormalities.
Created: 2 Jun 2016, 1:20 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Roberts syndrome 238300

Publications

  • Vega et al (2010) J. Med. Genet. 47: 30-37.

Ellen McDonagh (Genomics England Curator)

I don't know

Comment when marking as ready: To remain on the red list due to expert review.
Created: 2 Jun 2016, 1:39 p.m.
Not on the Manchester congenital cataracts gene panel. Roberts syndrome includes cataracts as a phenotype.
Created: 29 Apr 2016, 11:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Vega et al (2010) J. Med. Genet. 47: 30-37
  • Roberts syndrome 238300
OMIM
609353
Clinvar variants
Variants in ESCO2
Penetrance
Complete
Publications
  • Vega et al (2010) J. Med. Genet. 47: 30-37.
Panels with this gene

History Filter Activity

2 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

2 Jun 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ESCO2 were set to Vega et al (2010) J. Med. Genet. 47: 30-37; Roberts syndrome 238300

2 Jun 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ESCO2 were set to Vega et al (2010) J. Med. Genet. 47: 30-37.

2 Jun 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for ESCO2 was changed to BIALLELIC, autosomal or pseudoautosomal

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

ESCO2 was added to Cataractspanel. Sources: UKGTN