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Inborn errors of metabolism

Gene: ATP13A2

Green List (high evidence)

ATP13A2 (ATPase 13A2)
EnsemblGeneIds (GRCh38): ENSG00000159363
EnsemblGeneIds (GRCh37): ENSG00000159363
OMIM: 610513, Gene2Phenotype
ATP13A2 is in 18 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in OMIM and as a both DD and IF G2P for Kufor-Rakeb syndrome 606693. At least 8 variants reported in Kufor-Rakeb syndrome 606693 and 5 in Spastic paraplegia 78, autosomal recessive 617225
Created: 6 Mar 2017, 12:29 p.m.
Comment on phenotypes: Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism); Early onset dystonia; Intellectual disability; Parkinson Disease and Complex Parkinsonism
Created: 6 Mar 2017, 12:28 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Parkinson Disease and Complex Parkinsonism

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ATP13A2. Source London North GLH was added to ATP13A2.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: ATP13A2 was added gene: ATP13A2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP13A2 were set to Kufor-Rakeb syndrome