Skeletal dysplasia
Gene: ESCO2
268300: Limb hypoplasia-reduction defects gp of SD. Also mutated in SC phocomelia syndrome 269000, that isn't listed in the nosology paper, but is part of the phenotypic spectrum. Both phenotypes can be present in the same family. Chromosomes in these disorders have a characteristic appearance. Many cases reported.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Roberts syndrome 268300; SC phocomelia syndrome 269000
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: ESCO2; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 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.
Tier 2Created: 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
Added phenotypes SC phocomelia syndrome 269000; Roberts syndrome 268300 for gene: ESCO2
Source NHS GMS was added to ESCO2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for ESCO2 were set to Roberts syndrome 268300; SC phocomelia syndrome 269000
Phenotypes for ESCO2 were set to Roberts syndrome 268300; SC phocomelia syndrome 269000
Mode of inheritance for ESCO2 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
ESCO2 was added to Unexplained skeletal dysplasiapanel. Sources:
ESCO2 was created by sleigh