Fetal anomalies
Gene: ATP5O
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
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). RelevantCreated: 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
Tag Q2_23_promote_green was removed from gene: ATP5O. Tag Q2_23_NHS_review was removed from gene: ATP5O.
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)
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
Tag Q2_23_promote_green tag was added to gene: ATP5O. Tag Q2_23_NHS_review tag was added to gene: ATP5O.
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.
Publications for gene: ATP5O were set to
Tag Q2_23_promote_green tag was added to gene: ATP5O. Tag Q2_23_NHS_review tag was added to gene: ATP5O.
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