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Mitochondrial disease

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 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two families and animal model. HGNC approved name: ATP5F1D.
Created: 3 May 2020, 3:36 a.m. | Last Modified: 3 May 2020, 3:36 a.m.
Panel Version: 0.442

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex V (ATP synthase) deficiency, MIM# 618120

Publications

Created: 3 May 2020, 3:36 a.m.
Last Modified: 3 May 2020, 3:36 a.m.
Panel version: 0.442

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, MIM# 618120
Tags
new gene name
OMIM
603150
Clinvar variants
Variants in ATP5D
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 May 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ATP5D were changed from to Mitochondrial complex V (ATP synthase) deficiency, MIM# 618120

3 May 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ATP5D were set to

3 May 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ATP5D was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

3 May 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ATP5D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

3 May 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ATP5D was added gene: ATP5D was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: ATP5D was set to Unknown