ESCO2

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

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Amber ESCO2 in Cataract Level 2: Ophthalmological disorders Version 0.366	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Craniofacial abnormalities Developmental Delay Corneal opacities Growth retardation Limb abnormalities Roberts syndrome 238300
Green ESCO2 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.418	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert list Phenotypes Roberts-SC phocomelia syndrome, MIM# 268300 Atrial septal defect Ventricular septal defect Pulmonic stenosis tricuspid regurgitation
Amber ESCO2 in Craniosynostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.68	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes 268300 ROBERTS SYNDROME
Red ESCO2 in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.313	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Roberts syndrome, MIM# 268300
Green ESCO2 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Juberg-Hayward syndrome, MIM# 216100 Roberts-SC phocomelia syndrome, MIM#268300
Green ESCO2 in Radial Ray Abnormalities Level 2: Dysmorphic and congenital abnormality syndromes Version 1.10 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Roberts syndrome 268300 SC phocomelia syndrome 269000 Juberg-Hayward syndrome, MIM# 216100
Green ESCO2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	Unknown	Sources Genetic Health Queensland Expert Review Green
Green ESCO2 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes SC phocomelia syndrome 269000 Roberts syndrome 268300
Green ESCO2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes SC phocomelia syndrome, 269000 (3)
Green ESCO2 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Roberts syndrome
Green ESCO2 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Juberg-Hayward syndrome, MIM# 216100 Roberts-SC phocomelia syndrome, MIM#268300
Green ESCO2 in Hand and foot malformations Level 2: Dysmorphic and congenital abnormality syndromes Version 0.74 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes SC phocomelia syndrome 269000 Roberts syndrome 268300
Green ESCO2 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp NHS GMS Literature Phenotypes Juberg-Hayward syndrome, MIM# 216100 Roberts-SC phocomelia syndrome, MIM#268300
Green ESCO2 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes SC phocomelia syndrome, 269000 (3)
Red ESCO2 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Juberg-Hayward syndrome, MIM# 216100 Roberts-SC phocomelia syndrome, MIM#268300
Green ESCO2 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes SC phocomelia syndrome, 269000 (3)