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Fetal anomalies

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 6 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 10 Oct 2023, 3:39 p.m. | Last Modified: 10 Oct 2023, 3:39 p.m.
Panel Version: 3.111

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 10 Oct 2023, 3:39 p.m.
Last Modified: 10 Oct 2023, 3:39 p.m.
Panel version: 3.111

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

Green List (high evidence)

This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Created: 5 May 2023, 3 p.m. | Last Modified: 5 May 2023, 3 p.m.
Panel Version: 3.8
On 4 panels, inc. IEM. No disease associations on OMIM. Ganapathi et al., 2022 (PMID 35621276): Family 1 II.3: 4mo (deceased) male child of consanguinous parents. Prenatal phenotypes: IUGR, CHD. Neonatal: respiratory distress and bradycardia. Generalised hypotonia and seizures. Progressive HCM. Brain MRI: periventricular cysts with mild ventriculomegaly, cavum septum pellucidum, white matter hypersignal around ventricules. Not dysmorphic at 20do. Hypospadias. Family 2 II-1: 6mo deceased male to non-consang parents. Prenatal phenotypes: IUGR, oligohydramnios. Neonatal: respiratory distress, bradycardia, gen. oedema, bilateral hydronephrosis & renal insufficiency. Brain MRI: cerebral atrophy, thin corpus callosum, arachnoid cysts in posterior fossa and L anterior-inferior temporal lobe, cavum septum pellucidum, cavum vergae. Progressive HCM, pericardial effusion. Dysmorphic facial features at 4mo. Enlarged, echogenic kidneys w/o hydronephrosis at 5mo, hypospadias and cryptorchidism. Family 2 II-4: 3yo living female. Prenatal phenotypes: gestational DM. Neonatal: respiratory distress. Generalised hypotonia, epilepsy. Brain MRI: diffuse supretentorial volume loss, restricted diffusion of basal ganglia and bilateral mesial temporal lobes, delayed myelination, thin CC, mild ventriculomegaly. Progressive HCM. Dysmorphic facial features at 13mo. All had c.87+3A>G homozygous variant. cDNA studies showed ATP5PO exon 2 skipping and WT product. Predicted to result in in-frame del of 17aas. Functional studies in yeast showed deletion impairs function of ATP5PO - yeast cells were unable to rescue respiratory growth. Conclusion: linked to prenatal phenotypes (IUGR, CHD, oligohydramnios). Relevant
Created: 5 May 2023, 3 p.m. | Last Modified: 5 May 2023, 3 p.m.
Panel Version: 3.8

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex V (ATP synthase) deficiency

Publications

Created: 5 May 2023, 3 p.m.
Last Modified: 5 May 2023, 3 p.m.
Panel version: 3.8

Details

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

History Filter Activity

10 Oct 2023, Gel status: 3

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_23_promote_green was removed from gene: ATP5O. Tag Q2_23_NHS_review was removed from gene: ATP5O.

10 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to ATP5O. Source NHS GMS was added to ATP5O. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Aug 2023, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ATP5O were changed from Mitochondrial complex V (ATP synthase) deficiency to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359

5 May 2023, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_23_promote_green tag was added to gene: ATP5O. Tag Q2_23_NHS_review tag was added to gene: ATP5O.

5 May 2023, Gel status: 2

Removed Tag, Removed Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_23_promote_green was removed from gene: ATP5O. Tag Q2_23_NHS_review was removed from gene: ATP5O. Tag new-gene-name tag was added to gene: ATP5O.

5 May 2023, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: ATP5O were set to

5 May 2023, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_23_promote_green tag was added to gene: ATP5O. Tag Q2_23_NHS_review tag was added to gene: ATP5O.

5 May 2023, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: ATP5O was added gene: ATP5O was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: ATP5O was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP5O were set to Mitochondrial complex V (ATP synthase) deficiency