Radial dysplasia

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.

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.

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Roberts syndrome, 268300
  • radial aplasia
  • absence of radii, SC phocomelia syndrome, 269000
OMIM
609353
Clinvar variants
Variants in ESCO2
Penetrance
Complete
Panels with this gene

History Filter Activity

23 May 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

23.05.2017: Panel revised and approved to Version 1.0 after expert review.

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

ESCO2 was added to Radial dysplasiapanel. Source: Expert list

5 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

ESCO2 was created by rfoulger

5 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

ESCO2 was added to Radial dysplasiapanel. Sources: Other