MT-ATP6

Red MT-ATP6 in Infantile nystagmus

Level 3: Ocular movement disorders
Level 2: Ophthalmological disorders
Version 1.10

Sources

• Expert Review Red
• Literature

Phenotypes

• Retinal degeneration and nystagmus
• Nystagmus
• Optic neuropathy and nystagmus

Green MT-ATP6 in Skeletal Muscle Channelopathies

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.46

Sources

• Expert Review Green
• Expert Review

Tags

• gene-checked

Green MT-ATP6 in Ataxia and cerebellar anomalies - narrow panel

Version 5.1
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• Neuropathy, Ataxia, and Retinitis Pigmentosa

Tags

• gene-checked

Green MT-ATP6 in Hereditary ataxia

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

Sources

• Expert Review Green
• UKGTN
• Emory Genetics Laboratory

Phenotypes

• Neuropathy, Ataxia, and Retinitis Pigmentosa

Tags

• gene-checked

Red MT-ATP6 in Albinism or congenital nystagmus

Version 3.5
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Red

Phenotypes

• Retinal degeneration and nystagmus
• Optic neuropathy and nystagmus
• Nystagmus

Green MT-ATP6 in Structural basal ganglia disorders

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

Sources

• Expert Review Green
• Literature

Tags

• gene-checked

Red MT-ATP6 in Paroxysmal central nervous system disorders

Version 3.10
Latest signed off version: v3.0 (22 Mar 2023)

Sources

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

Phenotypes

• Neuropathy, ataxia, and retinitis pigmentosa, 551500

Green MT-ATP6 in Optic neuropathy

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.30
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• London North GLH
• Expert Review Green
• UKGTN

Phenotypes

• Leber optic atrophy
• 535000
• neurogenic weakness, ataxia, and retinitis pigmentosa
• retinopathy

Tags

• gene-checked

Green MT-ATP6 in Skeletal muscle channelopathy

Version 3.5
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review Green
• London North GLH

Phenotypes

• Can resemble skeletal muscle channelopathy

Tags

• gene-checked

Red MT-ATP6 in Adult onset neurodegenerative disorder

Version 5.1
Latest signed off version: v5.0 (1 May 2024)

Sources

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

Phenotypes

• Neuropathy, Ataxia, and Retinitis Pigmentosa

Green MT-ATP6 in Undiagnosed metabolic disorders

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

Sources

• Expert Review Green

Tags

• gene-checked

Green MT-ATP6 in Likely inborn error of metabolism - targeted testing not possible

Version 5.1
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green

Tags

• gene-checked

Green MT-ATP6 in Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.477

Sources

• NHS GMS
• London North GLH
• Expert Review Green
• Expert Review

Tags

• gene-checked

Red MT-ATP6 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.1
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Red
• Expert Review Red
• Expert Review Amber
• BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

• n/a

Green MT-ATP6 in Mitochondrial disorders

Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 6.1
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green
• Emory Genetics Laboratory
• UKGTN

Tags

• gene-checked

Green MT-ATP6 in Hereditary ataxia with onset in adulthood

Version 5.1
Latest signed off version: v5.0 (1 May 2024)

Sources

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

Phenotypes

• Neuropathy, ataxia and retinitis pigmentosa, NARP, 551500
• Neuropathy, Ataxia, and Retinitis Pigmentosa

Tags

• gene-checked

Amber MT-ATP6 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 5.1
Latest signed off version: v5.0 (1 May 2024)

Sources

• Expert Review Amber
• NHS GMS

Phenotypes

• NARP syndrome, MONDO:0010794

Tags

• Q2_24_promote_green
• gene-checked
• Q2_24_NHS_review

Red MT-ATP6 in Adult onset dystonia, chorea or related movement disorder

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

Sources

• Expert Review Red
• NHS GMS
• London North GLH

Green MT-ATP6 in Hereditary neuropathy or pain disorder

Version 4.1
Latest signed off version: v4.0 (1 May 2024)

Sources

• Expert Review Green
• Expert Review
• London North GLH
• NHS GMS
• NHS GMS
• London North GLH

Tags

• gene-checked

No list MT-ATP6 in Childhood onset dystonia, chorea or related movement disorder

Version 4.1
Latest signed off version: v4.0 (1 May 2024)

Sources

• Expert Review Removed
• London North GLH

Phenotypes

• MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1

Tags

• curated_removed

Green MT-ATP6 in Severe Paediatric Disorders

Version 1.184

Sources

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

Phenotypes

• LEBER OPTIC ATROPHY
• LEIGH SYNDROME
• NARP SYNDROME
• SEIZURES AND LACTIC ACIDOSIS
• BILATERAL STRIATAL NECROSIS

Green MT-ATP6 in NARP syndrome or maternally inherited Leigh syndrome

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

Sources

• NHS GMS
• Expert Review Green

Tags

• gene-checked