Activity
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17 actions
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| Autoinflammatory disorders v2.34 | ALPK1 |
Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: ALPK1. Tag Q2_25_ NHS_review was removed from gene: ALPK1. |
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| Autoinflammatory disorders v2.34 | ALPK1 | Achchuthan Shanmugasundram commented on gene: ALPK1: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.33 | ALPK1 |
Achchuthan Shanmugasundram Source NHS GMS was added to ALPK1. Source Expert Review Green was added to ALPK1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Autoinflammatory disorders v2.10 | ALPK1 | Achchuthan Shanmugasundram Tag Q2_25_ NHS_review tag was added to gene: ALPK1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.10 | ALPK1 | Achchuthan Shanmugasundram Classified gene: ALPK1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.10 | ALPK1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dorota Rowczenio, there is sufficient evidence available for the association of ALPK1 with an auto-inflammatory condition, ROSAH. Hence, this gene can be promoted to green rating on this panel in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.10 | ALPK1 | Achchuthan Shanmugasundram Gene: alpk1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.9 | ALPK1 | Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: ALPK1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.9 | ALPK1 | Achchuthan Shanmugasundram Phenotypes for gene: ALPK1 were changed from Retinal dystrophy, Optic nerve edema, Splenomegaly, Anhidrosis, and migraine Headache syndrome (ROSAH) to ROSAH syndrome, OMIM:614979 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.8 | ALPK1 | Achchuthan Shanmugasundram Publications for gene: ALPK1 were set to PMID: 30967659; PMID: 36332842; PMID: 38251500; PMID: 40069099; PMID: 35868845 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.7 | ALPK1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: ALPK1 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.6 | ALPK1 |
Achchuthan Shanmugasundram changed review comment from: This gene has been associated with ROSAH syndrome (MIM #614979) in OMIM. There is sufficient evidence available (>30 unrelated families) in support of this gene-disease association. Nearly all patients exhibited at least one feature consistent with inflammation including recurrent fever, headaches with meningeal enhancement and premature basal ganglia/brainstem mineralisation on MRI, deforming arthritis, AA amyloidosis and intraocular inflammation. In vitro assays and systematic analysis of inflammatory features also established ROSAH as an autoinflammatory disease. This gene has already been promoted to green rating on R15 Primary immunodeficiency or monogenic inflammatory bowel disease panel (https://panelapp.genomicsengland.co.uk/panels/398/gene/ALPK1/). It is also green on Autoinflammatory Disorders panel from PanelApp Australia - https://panelapp-aus.org/panels/238/gene/ALPK1/.; to: This gene has been associated with ROSAH syndrome (MIM #614979) in OMIM. There is sufficient evidence available (>30 unrelated families) in support of this gene-disease association. Nearly all patients exhibited at least one feature consistent with inflammation including recurrent fever, headaches with meningeal enhancement and premature basal ganglia/brainstem mineralisation on MRI, deforming arthritis, AA amyloidosis and intraocular inflammation. In vitro assays and systematic analysis of inflammatory features also established ROSAH as an autoinflammatory disease. Gain-of-function missense variants in ALPK1 were reported to cause ROSAH in PMID:35868845. This gene has already been promoted to green rating on R15 Primary immunodeficiency or monogenic inflammatory bowel disease panel (https://panelapp.genomicsengland.co.uk/panels/398/gene/ALPK1/). It is also green on Autoinflammatory Disorders panel from PanelApp Australia - https://panelapp-aus.org/panels/238/gene/ALPK1/. |
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| Autoinflammatory disorders v2.6 | ALPK1 |
Achchuthan Shanmugasundram commented on gene: ALPK1: This gene has been associated with ROSAH syndrome (MIM #614979) in OMIM. There is sufficient evidence available (>30 unrelated families) in support of this gene-disease association. Nearly all patients exhibited at least one feature consistent with inflammation including recurrent fever, headaches with meningeal enhancement and premature basal ganglia/brainstem mineralisation on MRI, deforming arthritis, AA amyloidosis and intraocular inflammation. In vitro assays and systematic analysis of inflammatory features also established ROSAH as an autoinflammatory disease. This gene has already been promoted to green rating on R15 Primary immunodeficiency or monogenic inflammatory bowel disease panel (https://panelapp.genomicsengland.co.uk/panels/398/gene/ALPK1/). It is also green on Autoinflammatory Disorders panel from PanelApp Australia - https://panelapp-aus.org/panels/238/gene/ALPK1/. |
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| Autoinflammatory disorders v2.6 | ALPK1 | Achchuthan Shanmugasundram Source Literature was added to ALPK1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.5 | ALPK1 | Achchuthan Shanmugasundram reviewed gene: ALPK1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 30967659, 35868845, 36332842, 38251500, 40069099; Phenotypes: ROSAH syndrome, OMIM:614979; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.5 | ALPK1 | Dorota Rowczenio changed review comment from: Sources: Expert list; to: Sources: Expert list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.5 | ALPK1 |
Dorota Rowczenio gene: ALPK1 was added gene: ALPK1 was added to Autoinflammatory disorders. Sources: Expert list Mode of inheritance for gene: ALPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ALPK1 were set to PMID: 30967659; PMID: 36332842; PMID: 38251500; PMID: 40069099; PMID: 35868845 Phenotypes for gene: ALPK1 were set to Retinal dystrophy, Optic nerve edema, Splenomegaly, Anhidrosis, and migraine Headache syndrome (ROSAH) Penetrance for gene: ALPK1 were set to unknown Review for gene: ALPK1 was set to GREEN Added comment: Sources: Expert list |
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