HEXA

Red HEXA in White matter disorders and cerebral calcification - narrow panel

Version 3.35
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Red

Green HEXA in Ataxia and cerebellar anomalies - narrow panel

Version 4.64
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• GM2-gangliosidosis, several forms, 272800
• Tay-Sachs disease, 272800

Green HEXA in Lysosomal storage disorder

Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• NHS GMS
• Wessex and West Midlands GLH
• Expert Review Green
• North London GLH

Phenotypes

• Tay-Sachs disease OMIM:272800
• GM2-gangliosidosis, several forms OMIM:272800
• Tay-Sachs disease MONDO:0010100

Green HEXA in Adult onset leukodystrophy

Version 3.24
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Green
• NHS GMS
• Yorkshire and North East GLH

Phenotypes

• GM2-gangliosidosis, several forms, Tay-Sachs disease, [Hex A pseudodeficiency], 272800

Green HEXA in Hereditary ataxia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.332

Sources

• Expert Review Green
• UKGTN

Phenotypes

• GM2-gangliosidosis, several forms, 272800
• Tay-Sachs disease, 272800

Red HEXA in Structural basal ganglia disorders

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.39

Sources

• Expert Review Red
• Literature

Phenotypes

• GM2-gangliosidosis, several forms 272800
• Tay-Sachs disease 272800
• [Hex A pseudodeficiency] 272800 AR

Red HEXA in Inherited white matter disorders

Level 3: White matter disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.180

Sources

• Expert Review Red
• Expert Review

Green HEXA in Adult onset neurodegenerative disorder

Version 4.47
Latest signed off version: v4.34 (31 Jul 2023)

Sources

• Wessex and West Midlands GLH
• Yorkshire and North East GLH
• NHS GMS
• London North GLH
• Expert Review Green

Phenotypes

• GM2-gangliosidosis, several forms, OMIM:272800
• Tay-Sachs disease, OMIM:272800

Green HEXA in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617

Sources

• Expert Review Green
• Emory Genetics Laboratory
• UKGTN
• Radboud University Medical Center, Nijmegen
• Illumina TruGenome Clinical Sequencing Services
• Literature

Phenotypes

• GM2-gangliosidosis, several forms 272800
• Tay-Sachs disease 272800
• [Hex A pseudodeficiency] 272800

Green HEXA 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:

Sources

• London North GLH
• NHS GMS
• Expert Review Green

Phenotypes

• GM2-gangliosidosis, several forms, 272800
• Tay-Sachs disease, 272800

Red HEXA in Fetal anomalies

Version 3.164
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Red
• PAGE DD-Gene2Phenotype

Phenotypes

• GM2-GANGLIOSIDOSIS TYPE 1

Green HEXA in DDG2P

Version 3.88
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• GM2-GANGLIOSIDOSIS TYPE 1 272800

Green HEXA in Early onset or syndromic epilepsy

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.196
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Wessex and West Midlands GLH
• NHS GMS
• Expert Review Green
• Victorian Clinical Genetics Services

Phenotypes

• GM2-gangliosidosis, several forms, 272800
• Tay-Sachs disease, 272800

Green HEXA in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• Radboud University Medical Center, Nijmegen

Phenotypes

• Tay-Sachs disease, 272800
• GM2-gangliosidosis, several forms, 272800
• GM2-GANGLIOSIDOSIS TYPE 1 (GM2G1)

Green HEXA in Hereditary ataxia with onset in adulthood

Version 4.34
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• London North GLH
• NHS GMS
• Wessex and West Midlands GLH
• Expert Review Green
• Hereditary ataxia v1.148

Phenotypes

• Tay-Sachs disease, 272800
• GM2-gangliosidosis, several forms, 272800

Red HEXA in Adult onset dystonia, chorea or related movement disorder

Version 3.18
Latest signed off version: v3.12 (31 Jul 2023)

Sources

• NHS GMS
• South West GLH
• Expert Review Red

Phenotypes

• Hex A pseudodeficiency 272800
• GM2-gangliosidosis, several forms 272800
• Tay-Sachs disease 272800

Green HEXA in Hereditary neuropathy or pain disorder

Version 3.94
Latest signed off version: v3.24 (15 May 2023)

Sources

• Expert Review Green
• Literature

Phenotypes

• Tay-Sachs disease, OMIM:272800
• Late-onset Tay-Sachs disease

Green HEXA in Childhood onset dystonia, chorea or related movement disorder

Version 3.77
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• South West GLH
• Expert Review Green
• London North GLH

Phenotypes

• Hex A pseudodeficiency, 272800 AR
• GM2-gangliosidosis, several forms, 272800
• Tay-Sachs disease, 272800

Green HEXA in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• [Hex A pseudodeficiency], 272800
• GM2-gangliosidosis, several forms, 272800
• Tay-Sachs disease, 272800

Green HEXA in Tay-Sachs disease

Version 1.1
Latest signed off version: v1.0 (14 Sep 2023)

Sources

• Expert Review Green
• NHS GMS