Likely inborn error of metabolism

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, 4:46 p.m. | Last Modified: 23 Nov 2023, 4:46 p.m.

Panel Version: 4.77

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, 5:38 p.m. | Last Modified: 7 Nov 2023, 5:38 p.m.

Panel Version: 4.68

Added new-gene-name tag, new approved HGNC gene symbol for ATP5B is ATP5F1B

Created: 9 May 2019, 3:01 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.