Mitochondrial disorder with complex V deficiency

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 7 panels

3 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Updated information and Green review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 2 unrelated children and functional studies
Created: 10 May 2019, 12:10 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex V (ATP synthase) deficiency, 618120

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Created: 10 May 2019, 12:35 p.m.
Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Created: 29 Mar 2019, 1:12 p.m.

Ivone Leong (Genomics England Curator)

Green List (high evidence)

ATP5D has a new gene name: ATP5F1D
Created: 4 Feb 2019, 11:47 a.m.
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: ATP5F1D; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.
Created: 4 Feb 2019, 10:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex V (ATP synthase) deficiency, 618120

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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

10 May 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: atp5d has been classified as Green List (High Evidence).

10 May 2019, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: ATP5D were set to

29 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: atp5d has been classified as Amber List (Moderate Evidence).

4 Feb 2019, Gel status: 4

Added Tag

Ivone Leong (Genomics England Curator)

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

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: ATP5D was added gene: ATP5D was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ATP5D was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP5D were set to Mitochondrial complex V (ATP synthase) deficiency, 618120