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| Neuronal ceroid lipofuscinosis v1.6 | ATP13A2 | Sarah Leigh 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neuronal ceroid lipofuscinosis v1.5 | ATP13A2 | Sarah Leigh Phenotypes for gene: ATP13A2 were changed from to Spastic paraplegia 78, autosomal recessive OMIM:617225; autosomal recessive spastic paraplegia type 78 MONDO:0014975 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neuronal ceroid lipofuscinosis v0.8 | ATP13A2 | Sarah Leigh Publications for gene: ATP13A2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neuronal ceroid lipofuscinosis v0.7 | ATP13A2 | Sarah Leigh Classified gene: ATP13A2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neuronal ceroid lipofuscinosis v0.7 | ATP13A2 | Sarah Leigh Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neuronal ceroid lipofuscinosis v0.7 | ATP13A2 | Sarah Leigh Gene: atp13a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neuronal ceroid lipofuscinosis v0.3 | ATP13A2 | Emma Ashton reviewed gene: ATP13A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neuronal ceroid lipofuscinosis v0.2 | ATP13A2 |
Ivone Leong 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 |
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