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Prepair 1000+

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

2 reviews

Lilian Downie (Victorian Clinical Genetics Services)

Comment when marking as ready: ClinGen review
Created: 28 Nov 2024, 3:44 a.m. | Last Modified: 28 Nov 2024, 3:44 a.m.
Panel Version: 1.631
Comment on phenotypes: ClinGen review for Roberts-SC phocolmelia MONDO:0100253 but no reference to Juberg-Hayward syndrome
Created: 28 Nov 2024, 3:44 a.m. | Last Modified: 28 Nov 2024, 3:44 a.m.
Panel Version: 1.631
Created: 28 Nov 2024, 3:44 a.m.
Last Modified: 28 Nov 2024, 3:44 a.m.
Panel version: 1.631

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Juberg-Hayward syndrome 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 is not a consistent feature. Two families reported but same homozygous variant (R55*) and ethnicity (PMID: 32977150)

JHS is allelic to Roberts-SC phocomelia syndrome. ESCO2 spectrum disorder comprises a phenotypic continuum that ranges from Roberts syndrome at the severe end to SC phocomelia at the milder end (GeneReviews).

RBS is characterized by prenatal-onset growth retardation that continues in the postnatal period, extremity malformations, craniofacial anomalies, impaired intellectual development, and cardiac and renal anomalies. Prenatal-onset growth retardation may be mild to severe.

Inter- and intra-familial clinical variability has been reported (Gene Reviews)
Created: 19 Nov 2024, 4:35 a.m. | Last Modified: 19 Nov 2024, 4:35 a.m.
Panel Version: 1.553

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 19 Nov 2024, 4:35 a.m.
Last Modified: 19 Nov 2024, 4:35 a.m.
Panel version: 1.553

History Filter Activity

28 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

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

28 Nov 2024, Gel status: 3

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: ESCO2 were changed from SC phocomelia syndrome, 269000 (3) to Juberg-Hayward syndrome (MIM#216100); Roberts-SC phocomelia syndrome (MIM#268300)

28 Nov 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: ESCO2 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes SC phocomelia syndrome, 269000 (3) for gene: ESCO2

1 Jun 2022, 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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,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 (3)