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  3. ATP5B
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Dystonia - isolated/combined

Gene: ATP5B

Amber List (moderate evidence)
ATP5B (ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide)
EnsemblGeneIds (GRCh38): ENSG00000110955
EnsemblGeneIds (GRCh37): ENSG00000110955
OMIM: 102910, Gene2Phenotype
ATP5B is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two families only; incomplete penetrance observed. Some functional data.
Created: 9 Mar 2023, 7:54 a.m. | Last Modified: 9 Mar 2023, 7:54 a.m.
Panel Version: 1.30

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Inherited dystonia, MONDO:0044807, ATP5B-related

Created: 9 Mar 2023, 7:54 a.m.
Last Modified: 9 Mar 2023, 7:54 a.m.
Panel version: 1.30

Shekeeb Mohammad (Children's Hospital at Westmead)

Green List (high evidence)

Sources: Literature
Created: 6 Mar 2023, 1:57 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
DYSTONIA; PROGRESSIVE DYSTONIA

Publications

Created: 6 Mar 2023, 1:57 a.m.

Panel version: 1.30

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Inherited dystonia, MONDO:0044807, ATP5B-related
OMIM
102910
Clinvar variants
Variants in ATP5B
Penetrance
Incomplete
Publications
Panels with this gene

History Filter Activity

9 Mar 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp5b has been classified as Amber List (Moderate Evidence).

9 Mar 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ATP5B were changed from DYSTONIA; PROGRESSIVE DYSTONIA to Inherited dystonia, MONDO:0044807, ATP5B-related

9 Mar 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp5b has been classified as Amber List (Moderate Evidence).

6 Mar 2023, Gel status: 0

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

Shekeeb Mohammad (Children's Hospital at Westmead)

gene: ATP5B was added gene: ATP5B was added to Dystonia - isolated/combined. Sources: Literature Mode of inheritance for gene: ATP5B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATP5B were set to 36860166 Phenotypes for gene: ATP5B were set to DYSTONIA; PROGRESSIVE DYSTONIA Penetrance for gene: ATP5B were set to Incomplete Review for gene: ATP5B was set to GREEN