Neuronal ceroid lipofuscinosis
Gene: ATP13A2EnsemblGeneIds (GRCh38): ENSG00000159363
EnsemblGeneIds (GRCh37): ENSG00000159363
OMIM: 610513, Gene2Phenotype
ATP13A2 is in 20 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment on list classification: Comments from Dr Clare E Beesley, Clinical Scientist, London North Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust: we specified amber on the NCL panel because there was only one reported family that had storage inclusions consistent with NCL (PMID 22388936) and there is a terrier dog model with similar features (PMID 21362476). However, it’s possible that patients with Kufor-Rakeb have storage inclusions consistent with NCL, but they’ve just not been investigated. There is plenty of evidence for it to be green for Kufor-Rakeb syndrome in the undiagnosed metabolic disorders panel (https://panelapp.genomicsengland.co.uk/panels/302/gene/ATP13A2) so, for consistency, we would be happy for it to be promoted to green for the NCL panel.Created: 13 Aug 2019, 10:29 a.m. | Last Modified: 13 Aug 2019, 10:29 a.m.
Panel Version: 0.7
Emma Ashton (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- London North GLH
- Phenotypes
-
- Kufor-Rakeb syndrome OMIM:606693
- Kufor-Rakeb syndrome MONDO:0011706
- OMIM
- 610513
- Clinvar variants
- Variants in ATP13A2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary spastic paraplegia
- Structural eye disease
- Adult onset neurodegenerative disorder
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
- Lysosomal storage disorder
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Neuronal ceroid lipofuscinosis
- Intellectual disability
- Retinal disorders
- Likely inborn error of metabolism
- Parkinson Disease and Complex Parkinsonism
- Early onset dystonia
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: ATP13A2 were changed from Spastic paraplegia 78, autosomal recessive OMIM:617225; autosomal recessive spastic paraplegia type 78 MONDO:0014975 to Kufor-Rakeb syndrome OMIM:606693; Kufor-Rakeb syndrome MONDO:0011706
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: ATP13A2 were changed from to Spastic paraplegia 78, autosomal recessive OMIM:617225; autosomal recessive spastic paraplegia type 78 MONDO:0014975
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: ATP13A2 were set to
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: atp13a2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: ATP13A2 was added gene: ATP13A2 was added to Neuronal ceroid lipofuscinosis. Sources: London North GLH,Expert Review Amber,NHS GMS Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal