Mitochondrial disorder with complex V deficiency

Gene: ATP5B

I don't know

In the opinion of Helen Brittain (Clinical Fellow, Genomics England) is "There is a lack of clarity over the penetrance, plus also the phenotypes are somewhat disparate (the twins had DD with episodic hyperthermia, whereas the other cases presented with dystonia). A gene:disease association cannot be made at this time".

Created: 23 Nov 2023, 4:47 p.m. | Last Modified: 23 Nov 2023, 4:47 p.m.

Panel Version: 2.12

PMIDs 36239646 & 36860166 report a total of three ATP5B (ATP5F1B) heterozygous variants in three unrelated families. The subjects described in PMID 36239646 were monozygotic twins with de novo variant NM_001686.3: c.1004 T>C, (p.Leu335Pro). They had congenital hypermetabolism and uncoupled oxidative phosphorylation. The affected members of the two families described by PMID 36860166 had early-onset isolated dystonia. The heterozygous ATP5B (ATP5F1B) variants (NM_001686.4: c.1000A>C; p.Thr334Pro & c.1445T>C; p.Val482Ala) were inherited, with a total of four affected individuals and three unaffected carriers (PMID 36860166 figure 1), thereby, it was stated that the condition had incomplete penetrance in these cases.

Created: 7 Nov 2023, 5:37 p.m. | Last Modified: 7 Nov 2023, 5:37 p.m.

Panel Version: 2.12

I don't know

Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: no reports of human disease; complex V subunit

Created: 10 May 2019, 12:10 p.m.

Mode of inheritance
Unknown

Phenotypes
No OMIM phenotype

Publications

• none found

Green List (high evidence)

ATP5B has a new gene name: ATP5F1B

Created: 4 Feb 2019, 11:45 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: ATP5F1B; Suggested intial gene rating: Green.

Created: 4 Feb 2019, 10:48 a.m.

Mode of inheritance
Unknown

Phenotypes
No OMIM phenotype

Added new-gene-name tag, new approved HGNC gene symbol is ATP5F1B

Created: 21 Mar 2018, 12:43 p.m.

Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.

Created: 10 May 2019, 12:32 p.m.

Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red 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.

Comment on list classification: Candidate gene therefore should remain on the red list.

Created: 26 Feb 2016, 12:42 p.m.

I don't know

no mutation reports in literature;
good candidate gene for mitochondrial complex V (ATP synthase) deficiency

Created: 3 Feb 2016, 6:02 p.m.