Limb disordersGene: ESCO2
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.
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: 17 Jun 2016, 8:03 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Roberts syndrome 268300; SC phocomelia syndrome 269000
Variants in this GENE are reported as part of current diagnostic practice
Ana Beleza: Tier 2
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
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