Hereditary Spastic Paraplegia - adult onset
Gene: ATP13A2

ATP13A2 (ATPase 13A2)
EnsemblGeneIds (GRCh38): ENSG00000159363
EnsemblGeneIds (GRCh37): ENSG00000159363
OMIM: 610513, Gene2Phenotype
ATP13A2 is in 14 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least four families reported with HSP.
Created: 19 Apr 2020, 8:29 a.m. | Last Modified: 19 Apr 2020, 8:29 a.m.

Panel Version: 0.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 78, autosomal recessive MIM#617225

Publications

Created: 19 Apr 2020, 8:29 a.m.
Last Modified: 19 Apr 2020, 8:29 a.m.
Panel version: 0.6

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Spastic paraplegia 78, autosomal recessive, 617225
Kufor-Rakeb syndrome, 606693 AR
complicated hereditary spastic paraplegia
Adult-onset lower-limb predominant spastic paraparesis

OMIM

610513

Clinvar variants

Variants in ATP13A2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

15 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp13a2 has been classified as Green List (High Evidence).

15 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ATP13A2 were set to

31 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ATP13A2 was added gene: ATP13A2 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP13A2 were set to Spastic paraplegia 78, autosomal recessive, 617225; Kufor-Rakeb syndrome, 606693 AR; complicated hereditary spastic paraplegia; Adult-onset lower-limb predominant spastic paraparesis

Hereditary Spastic Paraplegia - adult onset Gene: ATP13A2