SLC35A3

solute carrier family 35 member A3
OMIM: 605632, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Red SLC35A3 in Congenital disorders of glycosylation Level 2: Metabolic Version 7.13 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553
Green SLC35A3 in Arthrogryposis Level 2: Neurology Version 9.24 Latest signed off version: v9.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553
Red SLC35A3 in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) 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 Expert Review Red Phenotypes Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553
Green SLC35A3 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553
Amber SLC35A3 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.125 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Literature Phenotypes Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553 Tags watchlist
Amber SLC35A3 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553 Tags watchlist