Optic neuropathy
Gene: MT-ATP6EnsemblGeneIds (GRCh38): ENSG00000198899
EnsemblGeneIds (GRCh37): ENSG00000198899
OMIM: 516060, Gene2Phenotype
MT-ATP6 is in 21 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
Mitochondrial - cannot be tested in panel with nuclear genesCreated: 19 Mar 2019, 3:33 p.m.
Mode of inheritance
MITOCHONDRIAL
Phenotypes
Leber optic atrophy, 535000; neurogenic weakness, ataxia, and retinitis pigmentosa; retinopathy
Publications
Ellen McDonagh (Genomics England Curator)
Comment on list classification: More than 3 cases reported.Created: 7 Sep 2016, 8:27 a.m.
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- London North GLH
- Expert Review Green
- UKGTN
- Phenotypes
-
- Leber optic atrophy
- 535000
- neurogenic weakness, ataxia, and retinitis pigmentosa
- retinopathy
- Tags
- OMIM
- 516060
- Clinvar variants
- Variants in MT-ATP6
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Retinal disorders
- Infantile nystagmus
- Optic neuropathy
- Skeletal muscle channelopathy
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- NARP syndrome or maternally inherited Leigh syndrome
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Albinism or congenital nystagmus
- Hereditary ataxia
- Skeletal Muscle Channelopathies
- Paroxysmal central nervous system disorders
- Undiagnosed metabolic disorders
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Added Tag
Eleanor Williams (Genomics England Curator)Tag gene-checked tag was added to gene: MT-ATP6.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source London North GLH was added to MT-ATP6. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)13.09.2016: 'Inherited optic neuropathies' was removed as a relevant disorder from the Posterior segment abnormalities gene panel (version 1.9) and this panel was approved to live. It has been internally reviewed and revised based on evidence available for each gene, and was promoted to version 1 to be used for analysis.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for MT-ATP6 was changed to MITOCHONDRIAL
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MT-ATP6 were set to 7726182; 10676807; 26448634; 26252090; 24118886 (functional evidence); 23266623
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MT-ATP6 were set to 7726182; 10676807; 26448634; 26252090; 24118886 (functional evidence)
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MT-ATP6 were set to 7726182; 10676807; 26448634;26252090
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MT-ATP6 were set to Leber optic atrophy; 535000; neurogenic weakness, ataxia, and retinitis pigmentosa;retinopathy
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MT-ATP6 were set to 7726182; 10676807;26448634
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MT-ATP6 were set to 7726182;10676807
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MT-ATP6 were set to LEBER OPTIC ATROPHY; 535000;neurogenic weakness, ataxia, and retinitis pigmentosa
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MT-ATP6 were set to 7726182
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MT-ATP6 were set to LEBER OPTIC ATROPHY; 535000
Added New Source
GEL ()MT-ATP6 was added to Inherited optic neuropathies panel. Sources: UKGTN