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Limb disorders

Gene: ESCO2

Green List (high evidence)
ESCO2 (establishment of sister chromatid cohesion N-acetyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000171320
EnsemblGeneIds (GRCh37): ENSG00000171320
OMIM: 609353, Gene2Phenotype
ESCO2 is in 11 panels

3 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: The phenotype observed to date (tetraphocomelia) is likely to be too extreme to present via a radial dysplasia panel, however it does include bilateral absence of the radii and therefore included.
Created: 11 May 2017, 11:56 a.m.
Comment on list classification: Evidence for causation is clear
Created: 11 May 2017, 11:54 a.m.
Created: 11 May 2017, 11:54 a.m.

Panel version: Imported from Radial dysplasia panel version 0.95

Sarah Leigh (Genomics England Curator)

Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)
Created: 21 Jun 2016, 12:48 p.m.
Created: 21 Jun 2016, 12:48 p.m.

Panel version: Imported from Radial dysplasia panel version Imported from "Unexplained skeletal dysplasia" panel version 0.28

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 17 Jun 2016, 8:03 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Roberts syndrome 268300; SC phocomelia syndrome 269000

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jun 2016, 8:03 a.m.

Panel version: Imported from Radial dysplasia panel version Imported from "Unexplained skeletal dysplasia" panel version 0.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • absence of radii, SC phocomelia syndrome, 269000
  • Roberts syndrome, 268300
  • radial aplasia
OMIM
609353
Clinvar variants
Variants in ESCO2
Penetrance
None
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 2

16 Oct 2018, Gel status: 4

Added New Source, Set Phenotypes

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to ESCO2. Added phenotypes absence of radii, SC phocomelia syndrome, 269000; Roberts syndrome, 268300; radial aplasia for gene: ESCO2

16 Oct 2018, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: ESCO2 was added gene: ESCO2 was added to Limb disorders. Sources: Other Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ESCO2 were set to absence of radii, SC phocomelia syndrome, 269000; Roberts syndrome, 268300; radial aplasia