Gene Symbol:
ATP5F1A
HGNC:823
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
18q21.1
Filters:

Illumina classifications

mitochondrial disease
AR
02/03/2023
Evaluated
06/30/2023
Submitted

Invitae classifications

combined oxidative phosphorylation deficiency 22
Submitted as: OMIM:616045
Unknown
12/15/2018
Evaluated
11/30/2023
Submitted
mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A
Submitted as: OMIM:620358
AD
07/17/2023
Evaluated
11/30/2023
Submitted

Orphanet classifications

mitochondrial proton-transporting ATP synthase complex deficiency
Submitted as: Orphanet:254913
AR
09/14/2021
Evaluated
09/14/2021
Submitted

G2P classifications

mitochondrial complex V (ATP synthase) deficiency nuclear type 4B
Submitted as: OMIM:615228
AR
12/07/2021
Evaluated
09/11/2023
Submitted

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