Hereditary Spastic Paraplegia - adult onset
Gene: ATP2B4

ATP2B4 (ATPase plasma membrane Ca2+ transporting 4)
EnsemblGeneIds (GRCh38): ENSG00000058668
EnsemblGeneIds (GRCh37): ENSG00000058668
OMIM: 108732, Gene2Phenotype
ATP2B4 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

One Chinese family segregating a missense variant and one case with a assumed de novo nonsense variant. Supporting in vitro functional assays for the missense variant.
Created: 19 Apr 2020, 8:44 a.m. | Last Modified: 19 Apr 2020, 8:44 a.m.

Panel Version: 0.6

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hereditary spastic paraplegia

Publications

Created: 19 Apr 2020, 8:44 a.m.
Last Modified: 19 Apr 2020, 8:44 a.m.
Panel version: 0.6

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Royal Melbourne Hospital

Phenotypes

Pure and complicated hereditary spastic paraplegia

OMIM

108732

Clinvar variants

Variants in ATP2B4

Penetrance

None

Publications

Panels with this gene

History Filter Activity

16 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp2b4 has been classified as Amber List (Moderate Evidence).

16 Mar 2021, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ATP2B4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

31 Dec 2019, Gel status: 2

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ATP2B4 was added gene: ATP2B4 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital Mode of inheritance for gene: ATP2B4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATP2B4 were set to 29691679; 25798335; 25119969 Phenotypes for gene: ATP2B4 were set to Pure and complicated hereditary spastic paraplegia

Hereditary Spastic Paraplegia - adult onset Gene: ATP2B4