This Panel is marked as Internal
Intellectual disability update Jan 2018
Gene: MT-ATP6
MT-ATP6 (mitochondrially encoded ATP synthase 6)
EnsemblGeneIds (GRCh38): ENSG00000198899
EnsemblGeneIds (GRCh37): ENSG00000198899
OMIM: 516060, Gene2Phenotype
MT-ATP6 is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000198899
EnsemblGeneIds (GRCh37): ENSG00000198899
OMIM: 516060, Gene2Phenotype
MT-ATP6 is in 21 panels
1 review
Eleanor Williams (Genomics England Curator)
Comment on list classification: From OMIM: Isolated case of mental retardation and ataxia without retinitis pigmentosa, de Coo et al. (1996) - 8993T-G transversion (PMID: 8644724).
No other evidence of association with intellectual disability phenotypes in OMIM, Gene2Phenotype or PubMed searches.Created: 28 Feb 2018, 12:17 p.m.
Details
- Sources
-
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
- OMIM
- 516060
- Clinvar variants
- Variants in MT-ATP6
- Penetrance
- None
- Publications
- Panels with this gene
-
- Structural basal ganglia disorders
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Infantile nystagmus
- Adult onset neurodegenerative disorder
- Ataxia and cerebellar anomalies - narrow panel
- Skeletal muscle channelopathy
- Optic neuropathy
- Paroxysmal central nervous system disorders
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Retinal disorders
- NARP syndrome or maternally inherited Leigh syndrome
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Albinism or congenital nystagmus
- Adult onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- Skeletal Muscle Channelopathies
- Hereditary neuropathy
History Filter Activity
28 Feb 2018, Gel status: 1
Gene classified by Genomics England curator
Eleanor Williams (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
28 Feb 2018, Gel status: 2
Set publications
Eleanor Williams (Genomics England Curator)Publications for MT-ATP6 were set to 8644724
18 Dec 2017, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)MT-ATP6 was added to Intellectual disability update Jan 2018 panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Amber
18 Dec 2017, Gel status: 2
Created
Ellen McDonagh (Genomics England Curator)MT-ATP6 was created by Ellen McDonagh