Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: MT-ATP6

Green List (high evidence)

MT-ATP6 (mitochondrially encoded ATP synthase 6)
EnsemblGeneIds (GRCh38): ENSG00000198899
EnsemblGeneIds (GRCh37): ENSG00000198899
OMIM: 516060, Gene2Phenotype
MT-ATP6 is in 21 panels

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History Filter Activity

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

19 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: MT-ATP6 was added gene: MT-ATP6 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL Phenotypes for gene: MT-ATP6 were set to Neuropathy, Ataxia, and Retinitis Pigmentosa