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Neuronal ceroid lipofuscinosis v2.6 | GRN |
Sarah Leigh Tag Q4_23_promote_green was removed from gene: GRN. Tag Q4_22_promote_green tag was added to gene: GRN. |
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Neuronal ceroid lipofuscinosis v2.6 | GRN |
Sarah Leigh Tag Q4_22_promote_green was removed from gene: GRN. Tag Q4_23_promote_green tag was added to gene: GRN. |
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Neuronal ceroid lipofuscinosis v2.6 | CLCN6 | Sarah Leigh Mode of pathogenicity for gene: CLCN6 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neuronal ceroid lipofuscinosis v2.5 | CLCN6 | Sarah Leigh Added comment: Comment on mode of pathogenicity: PMID 33217309 reports gain of function associated with CLCN6 variants. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neuronal ceroid lipofuscinosis v2.5 | CLCN6 | Sarah Leigh Mode of pathogenicity for gene: CLCN6 was changed from to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neuronal ceroid lipofuscinosis v2.2 | CLCN6 | Sarah Leigh edited their review of gene: CLCN6: Added comment: PMIDs: 16950870 & 21107136 report the characterization of CLCN6 deficient mouse model, which display some features of neuronal ceroid lipofuscinosis. PMID: 16950870 identifies two heterozygous CLCN6 variants (p.V580M, p.T628R) in 2/75 patients with late-onset neuronal ceroid lipofuscinosis, however, the authors concluded that there was insufficient evidence for these variants being responsible for the phenotype in the patients.; Changed rating: AMBER; Changed publications to: 21107136, 33217309, 16950870 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neuronal ceroid lipofuscinosis v2.2 | CLCN6 | Sarah Leigh Publications for gene: CLCN6 were set to 29667327; 26658788; 25794116; 21107136; 33217309 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neuronal ceroid lipofuscinosis v2.1 | Arina Puzriakova Panel version 2.0 has been signed off on 2023-03-22 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neuronal ceroid lipofuscinosis v2.0 | Arina Puzriakova promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neuronal ceroid lipofuscinosis v1.27 | CLCN6 | Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: CLCN6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neuronal ceroid lipofuscinosis v1.27 | CLCN6 | Achchuthan Shanmugasundram reviewed gene: CLCN6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neuronal ceroid lipofuscinosis v1.26 | CLCN6 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CLCN6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Neuronal ceroid lipofuscinosis v1.25 | GRN | Arina Puzriakova Classified gene: GRN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neuronal ceroid lipofuscinosis v1.25 | GRN | Arina Puzriakova Added comment: Comment on list classification: This gene should be promoted to Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neuronal ceroid lipofuscinosis v1.25 | GRN | Arina Puzriakova Gene: grn has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neuronal ceroid lipofuscinosis v1.24 | GRN | Arina Puzriakova Publications for gene: GRN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neuronal ceroid lipofuscinosis v1.23 | GRN | Arina Puzriakova Tag Q4_22_promote_green tag was added to gene: GRN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neuronal ceroid lipofuscinosis v1.23 | GRN | Arina Puzriakova reviewed gene: GRN: Rating: GREEN; Mode of pathogenicity: None; Publications: 22608501, 27021778, 28000352, 28404863, 30922528, 31855245; Phenotypes: Ceroid lipofuscinosis, neuronal, 11, OMIM:614706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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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Neuronal ceroid lipofuscinosis v0.0 |
Ellen McDonagh Added Panel Neuronal ceroid lipofuscinosis Set panel types to: GMS Rare Disease |