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Intellectual disability syndromic and non-syndromic

Gene: ATP5O

Green List (high evidence)

ATP5O (ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit)
EnsemblGeneIds (GRCh38): ENSG00000241837
EnsemblGeneIds (GRCh37): ENSG00000241837
OMIM: 600828, Gene2Phenotype
ATP5O is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated families reported. Presenting features included DD, hypotonia, seizures.
Sources: Expert list
Created: 2 Sep 2023, 8:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359
OMIM
600828
Clinvar variants
Variants in ATP5O
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Sep 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp5o has been classified as Green List (High Evidence).

2 Sep 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp5o has been classified as Green List (High Evidence).

2 Sep 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp5o has been classified as Red List (Low Evidence).

2 Sep 2023, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ATP5O was added gene: ATP5O was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list Mode of inheritance for gene: ATP5O was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP5O were set to 35621276; 34954817 Phenotypes for gene: ATP5O were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359 Review for gene: ATP5O was set to GREEN