Mitochondrial disorders
Gene: ATP5B
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: 4.113
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: 4.112
De novo heterozygous missense mutation in a pair of monozygotic twin boys (PMID: 36239646). Functional studies done.
Two different variants recently reported in PMID: 36860166 in patients with early-onset isolated dystonia. One variant is at neighbouring amino acid to the one found above. Functional studies done. However, both variants also found in unaffected family members - incomplete penetrance suggested.Created: 22 Aug 2023, 3:53 p.m. | Last Modified: 22 Aug 2023, 3:53 p.m.
Panel Version: 4.82
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2
Publications
Added new-gene-name tag, new approved HGNC gene symbol is ATP5F1BCreated: 21 Mar 2018, 12:43 p.m.
Comment on list classification: Candidate gene therefore should remain on the red list.Created: 26 Feb 2016, 12:42 p.m.
no mutation reports in literature;
good candidate gene for mitochondrial complex V (ATP synthase) deficiencyCreated: 3 Feb 2016, 6:02 p.m.
Gene: atp5b has been classified as Amber List (Moderate Evidence).
Penetrance for gene ATP5B was set from to Complete
Mode of inheritance for gene: ATP5B was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATP5B were changed from No OMIM phenotype to ?Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, OMIM: 620085
Publications for gene: ATP5B were set to
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
ATP5B was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen