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Mendeliome

Gene: ATP2B4

Amber List (moderate evidence)

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 with HSP and one HSP case with a assumed de novo nonsense variant. Supporting in vitro functional assays for the missense variant.
Sources: Expert list
Created: 19 Apr 2020, 8:46 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hereditary spastic paraplegia

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Hereditary spastic paraplegia, MONDO:0019064, ATP2B4-related
OMIM
108732
Clinvar variants
Variants in ATP2B4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Sep 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ATP2B4 were changed from Hereditary spastic paraplegia to Hereditary spastic paraplegia, MONDO:0019064, ATP2B4-related

19 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

19 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

19 Apr 2020, Gel status: 1

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 Mendeliome. Sources: Expert list Mode of inheritance for gene: ATP2B4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP2B4 were set to 25119969; 25798335; 29691679 Phenotypes for gene: ATP2B4 were set to Hereditary spastic paraplegia Review for gene: ATP2B4 was set to AMBER