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Fetal anomalies

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

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Note recently reported allelic disorder which also has radial ray abnormalities as a feature:

Juberg-Hayward syndrome (JHS) is characterized by cleft lip and palate, rhizomelia of the upper limbs with limited elbow extension due to humeroradial synostosis or dislocation of the radial head, and digital anomalies, including shortened thumbs and index and fifth fingers. Microcephaly has been observed in some patients. Two families reported but same homozygous truncating variant and ethnicity, likely founder effect.
Created: 18 Mar 2021, 11:16 p.m. | Last Modified: 18 Mar 2021, 11:16 p.m.
Panel Version: 0.76

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Juberg-Hayward syndrome, MIM# 216100; Roberts-SC phocomelia syndrome, MIM#268300

Publications

Created: 18 Mar 2021, 11:16 p.m.
Last Modified: 18 Mar 2021, 11:16 p.m.
Panel version: Imported from Radial Ray Abnormalities panel version 0.76

Natalie Tan (Victorian Clinical Genetics Services)

Green List (high evidence)

Sources: NHS GMS

Multiple unrelated individuals with biallelic variants in association with Roberts syndrome/SC phocomelia spectrum.
Created: 22 Jul 2020, 6:26 a.m. | Last Modified: 22 Jul 2020, 6:32 a.m.
Panel Version: 0.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Roberts syndrome 268300; SC phocomelia syndrome 269000

Publications

Created: 22 Jul 2020, 6:26 a.m.
Last Modified: 22 Jul 2020, 6:32 a.m.
Panel version: Imported from Radial Ray Abnormalities panel version 0.11

Seb Lunke (Victorian Clinical Genetics Services)

I don't know

Corneal opacities described in 13/36 cases with Roberts syndrome (RBS) and SC phocomelia are caused by mutations in ESCO2.
Sources: Literature
Created: 8 Jul 2020, 4:14 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Craniofacial abnormalities; Developmental Delay; Corneal opacities; Growth retardation; Limb abnormalities; Roberts syndrome 238300

Publications

Created: 8 Jul 2020, 4:14 a.m.

Panel version: Imported from Cataract panel version 0.180

History Filter Activity

14 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ESCO2 were changed from ROBERTS SYNDROME; SC PHOCOMELIA SYNDROME to Juberg-Hayward syndrome, MIM# 216100; Roberts-SC phocomelia syndrome, MIM#268300

14 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ESCO2 were set to

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ESCO2 was added gene: ESCO2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ESCO2 were set to ROBERTS SYNDROME; SC PHOCOMELIA SYNDROME