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  3. ESCO2
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Cataract

Gene: ESCO2

Amber List (moderate 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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Phenotypic overlap.
Created: 8 Jul 2020, 6:23 a.m. | Last Modified: 8 Jul 2020, 6:23 a.m.
Panel Version: 0.183
Created: 8 Jul 2020, 6:23 a.m.
Last Modified: 8 Jul 2020, 6:23 a.m.
Panel version: 0.183

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: 0.180

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Craniofacial abnormalities
  • Developmental Delay
  • Corneal opacities
  • Growth retardation
  • Limb abnormalities
  • Roberts syndrome 238300
OMIM
609353
Clinvar variants
Variants in ESCO2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: esco2 has been classified as Amber List (Moderate Evidence).

8 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: esco2 has been classified as Amber List (Moderate Evidence).

8 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: esco2 has been classified as Amber List (Moderate Evidence).

8 Jul 2020, Gel status: 1

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

Seb Lunke (Victorian Clinical Genetics Services)

gene: ESCO2 was added gene: ESCO2 was added to Cataract. Sources: Literature Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ESCO2 were set to 19574259 Phenotypes for gene: ESCO2 were set to Craniofacial abnormalities; Developmental Delay; Corneal opacities; Growth retardation; Limb abnormalities; Roberts syndrome 238300 Review for gene: ESCO2 was set to AMBER