{{Rsnum
|rsid=80359857
|Chromosome=8
|Orientation=plus
|geno1=(-;-)
|geno2=(-;AG)
|geno3=(AG;AG)
|Gene=ESCO2
|position=27780191
|Gene_s=ESCO2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=80359857
|Reversed=0
|FwdREF=AG
|FwdALT=
|REF=CAG
|ALT=C
|RSPOS=27637705
|CHROM=8
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050168000000000002110200
|GENEINFO=ESCO2:157570
|GENE_NAME=ESCO2
|GENE_ID=157570
|WGT=0
|VC=DIV
|CLNALLE=1
|CLNHGVS=NC_000008.10:g.27637708_27637709delAG
|CLNSRC=GeneReviews
|CLNORIGIN=0
|CLNSRCID=NBK1153
|CLNSIG=5
|CLNCUI=C0392475
|CLNDBN=Roberts-SC phocomelia syndrome
|Disease=Roberts-SC phocomelia syndrome
|CLNACC=RCV000020413.1
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1153:C0392475:268300:269000:3103:48718006
}}{{PMID Auto
|PMID=15821733
|Title=Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion.
}}

{{PMID Auto
|PMID=18186147
|Title=Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family.
}}

{{PMID Auto
|PMID=18411254
|Title=The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.
}}