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Inborn errors of metabolism

Gene: ATP5D

Green List (high evidence)

ATP5D (ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit)
EnsemblGeneIds (GRCh38): ENSG00000099624
EnsemblGeneIds (GRCh37): ENSG00000099624
OMIM: 603150, Gene2Phenotype
ATP5D is in 6 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 2 unrelated children and functional studies.
From panels: Possible mitochondrial disorder - nuclear genes (Version 0.187) and Mitochondrial disorder with complex V deficiency (Version 0.25).
Created: 21 May 2019, 4:11 p.m.
ATP5D has a new gene name: ATP5F1D
Created: 21 May 2019, 4:08 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, 618120
Tags
new-gene-name
OMIM
603150
Clinvar variants
Variants in ATP5D
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Dec 2019, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: ATP5D.

6 Aug 2019, Gel status: 3

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

Sarah Leigh (Genomics England Curator)

gene: ATP5D was added gene: ATP5D was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ATP5D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP5D were set to 29478781 Phenotypes for gene: ATP5D were set to Mitochondrial complex V (ATP synthase) deficiency, 618120