Hereditary spastic paraplegia - childhood onset

Gene: ATP13A2

Green List (high evidence)

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

5 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

Childhood and adult onset.
Created: 3 May 2019, 4:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Louise Daugherty (Genomics England Curator)

I don't know

Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 4:54 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

4 unrelated cases published to support diagnostic rating
Created: 28 Apr 2019, 4:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Arianna Tucci (Genomics England Curator)

Onset in adolescence
Created: 25 Feb 2019, 11:25 a.m.

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel. Note that this gene may not be appropriate for a childhood onset panel.
Created: 8 Jan 2019, 12:10 p.m.

History Filter Activity

13 May 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ATP13A2 were set to 28137957; 27217339

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to ATP13A2.

28 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ATP13A2.

28 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to ATP13A2.

3 Apr 2019, Gel status: 3

Set Phenotypes, Status Update

Louise Daugherty (Genomics England Curator)

Added phenotypes Adult-onset lower-limb predominant spastic paraparesis; Spastic paraplegia 78, autosomal recessive, 617225; complicated hereditary spastic paraplegia for gene: ATP13A2 Rating Changed from Green List (high evidence) to Green List (high evidence)

28 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Comment on list classification

8 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

8 Jan 2019, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: ATP13A2 were set to 28137957

8 Jan 2019, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: ATP13A2 were changed from Adult-onset lower-limb predominant spastic paraparesis to Adult-onset lower-limb predominant spastic paraparesis; Spastic paraplegia 78, autosomal recessive, 617225; complicated hereditary spastic paraplegia

19 Dec 2018, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: ATP13A2 was added gene: ATP13A2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP13A2 were set to 28137957 Phenotypes for gene: ATP13A2 were set to Adult-onset lower-limb predominant spastic paraparesis