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Mitochondrial disease v2.8 ATP5F1D Zornitza Stark Classified gene: ATP5F1D as Amber List (moderate evidence)
Mitochondrial disease v2.8 ATP5F1D Zornitza Stark Gene: atp5f1d has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v2.7 ATP5F1D Zornitza Stark edited their review of gene: ATP5F1D: Added comment: LIMITED by ClinGen. Both reported families had homozygous missense variants. No further reports since 2018.; Changed rating: AMBER
Mitochondrial disease v2.0 ATP5F1D Gene symbol changed from ATP5D to ATP5F1D during gene set migration (ENSG00000099624 -> ENSG00000099624)