Activity
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25 actions
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| DDG2P v6.185 | GNE | Achchuthan Shanmugasundram Mode of pathogenicity for gene: GNE was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | GNE | Achchuthan Shanmugasundram edited their review of gene: GNE: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GNE-related congenital myopathy are limited, biallelic_autosomal and undetermined (PMID:35121750). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03240. The DDG2P confidence category, allelic requirement and molecular mechanism for GNE-related sialuria are limited, monoallelic_autosomal and undetermined (PMIDs: 10330343, 10356312, 11326336, 11486897, 27142465, 29923088, 32053088). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03241.; Changed publications to: 11326336, 11486897, 27142465, 10356312, 10330343, 35121750, 32053088, 29923088; Changed phenotypes to: MONDO:0010028, OMIM:269921.0, GNE-related sialuria, GNE-associated congenital myopathy, GNE-related congenital myopathy, MONDO:0019952, GNE-associated sialuria, OMIM:269921 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | CLDN19 | Achchuthan Shanmugasundram edited their review of gene: CLDN19: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CLDN19-related hypomagnesemia with ocular involvement are definitive, biallelic_autosomal and undetermined (PMID:17033971). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00685.; Changed phenotypes to: OMIM:248190.0, MONDO:0009548, CLDN19-related hypomagnesemia with ocular involvement, HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT, OMIM:248190 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ATP1A1 | Achchuthan Shanmugasundram edited their review of gene: ATP1A1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ATP1A1-related renal hypomagnesemia refractory seizures and intellectual disability are strong, monoallelic_autosomal and undetermined (PMID:30388404). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02626.; Changed phenotypes to: ATP1A1-related renal hypomagnesemia refractory seizures and intellectual disability, MONDO:0020788, Renal Hypomagnesemia Refractory Seizures and Intellectual Disability, OMIM:618314.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.15 | Achchuthan Shanmugasundram Panel types changed to Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.5 | TNFRSF13B | Arina Puzriakova Added comment: Comment on list classification: The content of this panel reflects genes and classifications assigned by Gene2Phenotype on their DDG2P panel. 'TNFRSF13B-related immunodeficiency, common variable' is currently classified as 'strong' (https://www.ebi.ac.uk/gene2phenotype/gene/TNFRSF13B) which maps to the PanelApp rating of Green - therefore this rating will be maintained on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.4 | PDE1B |
Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to support this gene disease association, however, the content of this panel reflects genes and classifications assigned by Gene2Phenotype (G2P) on their DDG2P panel. PDE1B is currently not associated with any disease models in G2P and therefore the grey rating will be maintained on this panel at this time. PDE1B has already been curated on other GMS panels with a green recommendation (Childhood onset dystonia, chorea or related movement disorder and Ataxia and cerebellar anomalies) to capture the evidence and ensure inclusion of this gene in the NHS GMS. |
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| DDG2P v6.2 | ELFN1 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to support this gene disease association, however, the content of this panel reflects genes and classifications assigned by Gene2Phenotype on their DDG2P panel. 'ELFN1-related intellectual disability and epilepsy' is currently classified as 'limited' (https://www.ebi.ac.uk/gene2phenotype/gene/ELFN1) which maps to the PanelApp rating of Red - therefore this rating will be maintained on this panel. This gene has been added to other GMS panels with a green recommendation (ID and epilepsy) to capture the evidence and ensure inclusion of ELFN1 in the NHS GMS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.1 | Sarah Leigh Panel version 6.0 has been signed off on 2025-04-30 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.1 | Arina Puzriakova Panel version 5.0 has been signed off on 2024-10-30 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.7 | Arina Puzriakova Panel version 4.6 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.1 | Achchuthan Shanmugasundram Panel version 4.0 has been signed off on 2024-05-01 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNE | Achchuthan Shanmugasundram reviewed gene: GNE: Rating: RED; Mode of pathogenicity: Other; Publications: 11486897, 35121750, 11326336, 10356312, 29923088, 27142465, 10330343, 32053088; Phenotypes: GNE-associated congenital myopathy, GNE-associated sialuria, OMIM:269921; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CNNM2 | Achchuthan Shanmugasundram reviewed gene: CNNM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 21397062, 30026055, 24699222; Phenotypes: CNNM2-related neurodevelopmental disorder with hypomagnesemia, autosomal recessive form; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLDN19 | Achchuthan Shanmugasundram reviewed gene: CLDN19: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17033971; Phenotypes: HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT, OMIM:248190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP1A1 | Achchuthan Shanmugasundram reviewed gene: ATP1A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30388404; Phenotypes: Renal Hypomagnesemia Refractory Seizures and Intellectual Disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GNE |
Achchuthan Shanmugasundram gene: GNE was added gene: GNE was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: GNE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GNE were set to 11486897; 35121750; 11326336; 10356312; 29923088; 27142465; 10330343; 32053088 Phenotypes for gene: GNE were set to GNE-associated congenital myopathy; GNE-associated sialuria, OMIM:269921 Mode of pathogenicity for gene: GNE was set to Other |
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| DDG2P v3.11 | CNNM2 |
Achchuthan Shanmugasundram gene: CNNM2 was added gene: CNNM2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CNNM2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CNNM2 were set to 21397062; 30026055; 24699222 Phenotypes for gene: CNNM2 were set to CNNM2-related neurodevelopmental disorder with hypomagnesemia; autosomal recessive form |
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| DDG2P v3.2 | Eleanor Williams Panel version 3.1 has been signed off on 2023-03-22 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.1 | Catherine Snow Panel version 3.0 has been signed off on 2022-11-30 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.3 | Rebecca Foulger Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.2 | Rebecca Foulger Panel types changed to GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.181 | Rebecca Foulger Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.37 | ATP1A1 |
Rebecca Foulger gene: ATP1A1 was added gene: ATP1A1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ATP1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATP1A1 were set to 30388404 Phenotypes for gene: ATP1A1 were set to Renal Hypomagnesemia Refractory Seizures and Intellectual Disability Mode of pathogenicity for gene: ATP1A1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CLDN19 |
Rebecca Foulger gene: CLDN19 was added gene: CLDN19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLDN19 were set to 17033971 Phenotypes for gene: CLDN19 were set to HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT 248190 Mode of pathogenicity for gene: CLDN19 was set to Other - please provide details in the comments |
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