ESCO2

establishment of sister chromatid cohesion N-acetyltransferase 2
OMIM: 609353, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green ESCO2 in Radial dysplasia Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.25	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Other Phenotypes Roberts syndrome, 268300 radial aplasia absence of radii, SC phocomelia syndrome, 269000
Red ESCO2 in VACTERL-like phenotypes Level 3: Limb disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.35	review	Not set	Sources Emory Genetics Laboratory
Green ESCO2 in Limb disorders Level 2: Musculoskeletal Version 8.6 Latest signed off version: v8.0 (6 May 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes absence of radii, SC phocomelia syndrome, 269000 Roberts syndrome, 268300 radial aplasia
Red ESCO2 in Bilateral congenital or childhood onset cataracts Level 2: Ophthalmology Version 8.1 Latest signed off version: v8.0 (6 May 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red UKGTN Phenotypes Vega et al (2010) J. Med. Genet. 47: 30-37 Roberts syndrome 238300
Green ESCO2 in Skeletal dysplasia Level 2: Musculoskeletal Version 9.9 Latest signed off version: v9.0 (6 May 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes SC phocomelia syndrome 269000 Roberts syndrome 268300
Green ESCO2 in Fetal anomalies Level 2: Fetal (including NIPD) Version 7.10 Latest signed off version: v7.0 (6 May 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes SC PHOCOMELIA SYNDROME ROBERTS SYNDROME
Amber ESCO2 in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 2: Musculoskeletal Version 6.5 Latest signed off version: v6.0 (30 Apr 2025)	review	Not set	Sources Expert Review Amber NHS GMS Expert list Phenotypes Roberts syndrome SC phocomelia syndrome
Green ESCO2 in DDG2P Version 7.1 Latest signed off version: v7.0 (6 May 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SC PHOCOMELIA SYNDROME 269000 ROBERTS SYNDROME 268300
Green ESCO2 in Clefting Level 2: Musculoskeletal Version 7.3 Latest signed off version: v7.0 (6 May 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Roberts-SC phocomelia syndrome, OMIM:268300 Roberts-SC phocomelia syndrome, MONDO:0100253
Green ESCO2 in Intellectual disability Level 2: Developmental disorders Version 10.17 Latest signed off version: v10.0 (6 May 2026) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Roberts syndrome, 268300SC phocomelia syndrome, 269000 SC PHOCOMELIA SYNDROME (SCPS)
Green ESCO2 in Structural eye disease Level 2: Ophthalmology Version 5.6 Latest signed off version: v5.0 (6 May 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green London North GLH Phenotypes SC Phocomelia Syndrome, 269000