SLC6A5

solute carrier family 6 member 5
OMIM: 604159, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green SLC6A5 in Brain channelopathy Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Hyperekplexia 3, 614618
Green SLC6A5 in Paroxysmal central nervous system disorders Level 2: Neurology Version 4.3 Latest signed off version: v4.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH Wessex and West Midlands GLH Phenotypes Hyperekplexia 3, 614618
Red SLC6A5 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.21 Latest signed off version: v8.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Hyperekplexia 3, 614618
Amber SLC6A5 in Likely inborn error of metabolism Level 2: Metabolic Version 8.113 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	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hyperekplexia 3, OMIM:614618 hyperekplexia 3, MONDO:0013827 Tags Q2_26_promote_green
Red SLC6A5 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.194 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes Hyperekplexia 3, 614618
Green SLC6A5 in DDG2P Version 6.447 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPEREKPLEXIA 149400
Red SLC6A5 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.195 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	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Red Expert Phenotypes Hyperekplexia 3, 614618
Red SLC6A5 in Intellectual disability Level 2: Developmental disorders Version 9.400 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes hyperekplexia (MIM:614618) and intellectual disability
Red SLC6A5 in Hereditary ataxia with onset in adulthood Level 2: Neurology Version 8.30 Latest signed off version: v8.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Wessex and West Midlands GLH Brain channelopathy v1.46 Phenotypes Hyperekplexia 3, 614618
Red SLC6A5 in Adult onset dystonia, chorea or related movement disorder Level 2: Neurology Version 5.5 Latest signed off version: v5.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Hyperekplexia 3, 614618
Amber SLC6A5 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.25 Latest signed off version: v7.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber PanelApp London North GLH Phenotypes Hyperekplexia 3, OMIM:614618 hyperekplexia 3, MONDO:0013827 Tags Q2_26_promote_green Q2_26_NHS_review