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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 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 v1.23 | 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 v1.4 | 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 v0.6 | CLCN6 | Sarah Leigh Publications for gene: CLCN6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.2 | 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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