Neuronal ceroid lipofuscinosisGene: ATP13A2
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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
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
Phenotypes for gene: ATP13A2 were changed from to Spastic paraplegia 78, autosomal recessive OMIM:617225; autosomal recessive spastic paraplegia type 78 MONDO:0014975
Publications for gene: ATP13A2 were set to
Gene: atp13a2 has been classified as Green List (High Evidence).
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