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Neuronal ceroid lipofuscinosis v1.23 CLCN6 Sarah Leigh edited their review of gene: CLCN6: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least three de novo occurrances of a single variant reported.; Changed rating: GREEN
Neuronal ceroid lipofuscinosis v1.23 CLCN6 Sarah Leigh Tag Q2_21_rating tag was added to gene: CLCN6.
Neuronal ceroid lipofuscinosis v1.23 CLCN6 Sarah Leigh Classified gene: CLCN6 as Amber List (moderate evidence)
Neuronal ceroid lipofuscinosis v1.23 CLCN6 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Neuronal ceroid lipofuscinosis v1.23 CLCN6 Sarah Leigh Gene: clcn6 has been classified as Amber List (Moderate Evidence).
Neuronal ceroid lipofuscinosis v1.22 CLCN6 Sarah Leigh Mode of inheritance for gene: CLCN6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neuronal ceroid lipofuscinosis v1.21 CLCN6 Sarah Leigh Added comment: Comment on phenotypes: There is no Mondo term for this phenotype at present
Neuronal ceroid lipofuscinosis v1.21 CLCN6 Sarah Leigh Phenotypes for gene: CLCN6 were changed from to Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities OMIM:619173
Neuronal ceroid lipofuscinosis v1.20 CLCN6 Sarah Leigh Publications for gene: CLCN6 were set to 29667327; 26658788; 25794116
Neuronal ceroid lipofuscinosis v1.19 GRN Sarah Leigh Phenotypes for gene: GRN were changed from to Ceroid lipofuscinosis, neuronal, 11 OMIM:614706; neuronal ceroid lipofuscinosis 11 MONDO:0013866
Neuronal ceroid lipofuscinosis v1.18 TPP1 Sarah Leigh Phenotypes for gene: TPP1 were changed from to Ceroid lipofuscinosis, neuronal, 2 OMIM:204500; neuronal ceroid lipofuscinosis 2 MONDO:0008769
Neuronal ceroid lipofuscinosis v1.17 PPT1 Sarah Leigh Phenotypes for gene: PPT1 were changed from to Ceroid lipofuscinosis, neuronal, 1 OMIM:256730; neuronal ceroid lipofuscinosis 1 MONDO:0009744
Neuronal ceroid lipofuscinosis v1.16 MFSD8 Sarah Leigh Phenotypes for gene: MFSD8 were changed from to Ceroid lipofuscinosis, neuronal, 7 OMIM:610951; neuronal ceroid lipofuscinosis 7 MONDO:0012588
Neuronal ceroid lipofuscinosis v1.15 KCTD7 Sarah Leigh Phenotypes for gene: KCTD7 were changed from to Epilepsy, progressive myoclonic 3, with or without intracellular inclusions OMIM:611726; progressive myoclonic epilepsy type 3 MONDO:0012721
Neuronal ceroid lipofuscinosis v1.14 DNAJC5 Sarah Leigh Phenotypes for gene: DNAJC5 were changed from to Ceroid lipofuscinosis, neuronal, 4, Parry type OMIM:162350; neuronal ceroid lipofuscinosis 4B MONDO:0008083
Neuronal ceroid lipofuscinosis v1.13 CTSF Sarah Leigh Phenotypes for gene: CTSF were changed from to Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM:615362; neuronal ceroid lipofuscinosis 13 MONDO:0014147
Neuronal ceroid lipofuscinosis v1.12 CTSD Sarah Leigh Phenotypes for gene: CTSD were changed from to Ceroid lipofuscinosis, neuronal, 10 OMIM:610127; neuronal ceroid lipofuscinosis 10 MONDO:0012414
Neuronal ceroid lipofuscinosis v1.11 CLN8 Sarah Leigh Phenotypes for gene: CLN8 were changed from Ceroid lipofuscinosis, neuronal, 8 OMIM:600143; neuronal ceroid lipofuscinosis 8 MONDO:0010830; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003; neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391 to Ceroid lipofuscinosis, neuronal, 8 OMIM:600143; neuronal ceroid lipofuscinosis 8 MONDO:0010830; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant OMIM:610003; neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391
Neuronal ceroid lipofuscinosis v1.10 CLN8 Sarah Leigh Phenotypes for gene: CLN8 were changed from to Ceroid lipofuscinosis, neuronal, 8 OMIM:600143; neuronal ceroid lipofuscinosis 8 MONDO:0010830; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003; neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391
Neuronal ceroid lipofuscinosis v1.9 CLN6 Sarah Leigh Phenotypes for gene: CLN6 were changed from to Ceroid lipofuscinosis, neuronal, 6 OMIM:601780; neuronal ceroid lipofuscinosis 6 MONDO:0011144; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset OMIM:204300; neuronal ceroid lipofuscinosis 4A MONDO:0008768
Neuronal ceroid lipofuscinosis v1.8 CLN5 Sarah Leigh Phenotypes for gene: CLN5 were changed from to Ceroid lipofuscinosis, neuronal, 5 OMIM:256731; neuronal ceroid lipofuscinosis 5 MONDO:0009745
Neuronal ceroid lipofuscinosis v1.7 CLN3 Sarah Leigh Phenotypes for gene: CLN3 were changed from to Ceroid lipofuscinosis, neuronal, 3 OMIM:204200; neuronal ceroid lipofuscinosis 3 MONDO:0008767
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 v1.4 CLCN6 Zornitza Stark reviewed gene: CLCN6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25794116, 21107136, 33217309; Phenotypes: Neurodegeneration, Benign partial epilepsy, febrile seizures, NCL; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neuronal ceroid lipofuscinosis v1.4 Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Panel version has been signed off
Neuronal ceroid lipofuscinosis v1.3 Sarah Leigh Panel version has been signed off
Neuronal ceroid lipofuscinosis v1.0 Sarah Leigh promoted panel to version 1.0
Neuronal ceroid lipofuscinosis v0.11 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Neuronal ceroid lipofuscinosis v0.9 Sarah Leigh List of related panels changed from to R231
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 v0.6 CLCN6 Sarah Leigh Publications for gene: CLCN6 were set to
Neuronal ceroid lipofuscinosis v0.4 CTSF Sarah Leigh Publications for gene: CTSF were set to
Neuronal ceroid lipofuscinosis v0.3 TPP1 Emma Ashton reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neuronal ceroid lipofuscinosis v0.3 PPT1 Emma Ashton reviewed gene: PPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neuronal ceroid lipofuscinosis v0.3 MFSD8 Emma Ashton reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neuronal ceroid lipofuscinosis v0.3 KCTD7 Emma Ashton reviewed gene: KCTD7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neuronal ceroid lipofuscinosis v0.3 GRN Emma Ashton reviewed gene: GRN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neuronal ceroid lipofuscinosis v0.3 DNAJC5 Emma Ashton reviewed gene: DNAJC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Neuronal ceroid lipofuscinosis v0.3 CTSF Emma Ashton reviewed gene: CTSF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neuronal ceroid lipofuscinosis v0.3 CTSD Emma Ashton reviewed gene: CTSD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neuronal ceroid lipofuscinosis v0.3 CLN8 Emma Ashton reviewed gene: CLN8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neuronal ceroid lipofuscinosis v0.3 CLN6 Emma Ashton reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neuronal ceroid lipofuscinosis v0.3 CLN5 Emma Ashton reviewed gene: CLN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neuronal ceroid lipofuscinosis v0.3 CLN3 Emma Ashton reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neuronal ceroid lipofuscinosis v0.3 CLCN6 Emma Ashton reviewed gene: CLCN6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown; Current diagnostic: yes
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 TPP1 Ivone Leong gene: TPP1 was added
gene: TPP1 was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS
Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Neuronal ceroid lipofuscinosis v0.2 PPT1 Ivone Leong gene: PPT1 was added
gene: PPT1 was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS
Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Neuronal ceroid lipofuscinosis v0.2 MFSD8 Ivone Leong gene: MFSD8 was added
gene: MFSD8 was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS
Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal
Neuronal ceroid lipofuscinosis v0.2 KCTD7 Ivone Leong gene: KCTD7 was added
gene: KCTD7 was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS
Mode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal
Neuronal ceroid lipofuscinosis v0.2 GRN Ivone Leong gene: GRN was added
gene: GRN was added to Neuronal ceroid lipofuscinosis. Sources: London North GLH,Expert Review Amber,NHS GMS
Mode of inheritance for gene: GRN was set to BIALLELIC, autosomal or pseudoautosomal
Neuronal ceroid lipofuscinosis v0.2 DNAJC5 Ivone Leong gene: DNAJC5 was added
gene: DNAJC5 was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS
Mode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neuronal ceroid lipofuscinosis v0.2 CTSF Ivone Leong gene: CTSF was added
gene: CTSF was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS
Mode of inheritance for gene: CTSF was set to BIALLELIC, autosomal or pseudoautosomal
Neuronal ceroid lipofuscinosis v0.2 CTSD Ivone Leong gene: CTSD was added
gene: CTSD was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS
Mode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal
Neuronal ceroid lipofuscinosis v0.2 CLN8 Ivone Leong gene: CLN8 was added
gene: CLN8 was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS
Mode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal
Neuronal ceroid lipofuscinosis v0.2 CLN6 Ivone Leong gene: CLN6 was added
gene: CLN6 was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS
Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal
Neuronal ceroid lipofuscinosis v0.2 CLN5 Ivone Leong gene: CLN5 was added
gene: CLN5 was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS
Mode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal
Neuronal ceroid lipofuscinosis v0.2 CLN3 Ivone Leong gene: CLN3 was added
gene: CLN3 was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS
Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal
Neuronal ceroid lipofuscinosis v0.2 CLCN6 Ivone Leong gene: CLCN6 was added
gene: CLCN6 was added to Neuronal ceroid lipofuscinosis. Sources: London North GLH,NHS GMS,Expert Review Red
Mode of inheritance for gene: CLCN6 was set to Unknown
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
Neuronal ceroid lipofuscinosis v0.0 Ellen McDonagh Added Panel Neuronal ceroid lipofuscinosis
Set panel types to: GMS Rare Disease