GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: ESCO2

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

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

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 Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Roberts syndrome 268300; SC phocomelia syndrome 269000

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

SC phocomelia syndrome 269000
Roberts syndrome 268300

OMIM

609353

Clinvar variants

Variants in ESCO2

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: ESCO2 was added gene: ESCO2 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ESCO2 were set to SC phocomelia syndrome 269000; Roberts syndrome 268300

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: ESCO2