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Intellectual disability syndromic and non-syndromic

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 16 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Mild to severe ID is a common feature of the condition.
Created: 27 Sep 2024, 7:03 a.m. | Last Modified: 27 Sep 2024, 7:03 a.m.
Panel Version: 0.6249

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Roberts-SC phocomelia syndrome MONDO:0100253

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

27 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: esco2 has been classified as Green List (High Evidence).

27 Sep 2024, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: ESCO2 were changed from to Roberts-SC phocomelia syndrome MONDO:0100253

27 Sep 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: ESCO2 were set to

27 Sep 2024, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: ESCO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ESCO2 was added gene: ESCO2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ESCO2 was set to Unknown