CHST3

carbohydrate sulfotransferase 3
OMIM: 603799, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Red CHST3 in Multiple Epiphyseal Dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.6	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 Spondyloepiphyseal Dysplasia
Green CHST3 in Congenital disorders of glycosylation Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 4.18 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Literature Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations 143095 CHST3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Green CHST3 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.56 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome) 143095
Green CHST3 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes CHST3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Spondyloepiphyseal dysplasia with congenital joint dislocations 143095 CHST3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Green CHST3 in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations 143095 CHST3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Green CHST3 in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
Red CHST3 in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 3: Craniosynostosis syndromes Level 2: Skeletal disorders Version 4.179 Latest signed off version: v4.0 (22 Mar 2023)	review	Not set	Sources NHS GMS Phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations
No list CHST3 in Osteogenesis imperfecta Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.5 Latest signed off version: v4.0 (22 Mar 2023)	review	Not set	Sources Expert Review Removed Emory Genetics Laboratory Phenotypes Disproportionate Short Stature Tags curated_removed
Green CHST3 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS 143095
Red CHST3 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095
Red CHST3 in Childhood onset dystonia, chorea or related movement disorder Version 3.75 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH
Green CHST3 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095