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| Optic neuropathy v4.11 | ALPK1 | Sarah Leigh reviewed gene: ALPK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v4.11 | ALPK1 | Sarah Leigh Publications for gene: ALPK1 were set to 30967659; 31053777; 31939038; 34159509 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.60 | ALPK1 |
Ivone Leong Tag Q4_21_rating was removed from gene: ALPK1. Tag Q4_21_NHS_review was removed from gene: ALPK1. |
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| Optic neuropathy v2.60 | ALPK1 | Ivone Leong commented on gene: ALPK1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.59 | ALPK1 |
Ivone Leong Source Expert Review Green was added to ALPK1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Optic neuropathy v2.54 | ALPK1 | Ivone Leong Phenotypes for gene: ALPK1 were changed from Retinopathy; Optic disc swelling; Splenomegaly; Pancytopenia; Headaches; ocular inflammation. to ROSAH syndrome, OMIM:614979 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.53 | ALPK1 | Ivone Leong Classified gene: ALPK1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.53 | ALPK1 | Ivone Leong Added comment: Comment on list classification: New gene added by Neringa Jurkute (MD). This gene is associated with a phenotype in OMIM and Gene2Phenotype (Strong). There is enough evidence to support a gene-disease assocation. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.53 | ALPK1 | Ivone Leong Gene: alpk1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.52 | ALPK1 |
Ivone Leong Tag Q4_21_rating tag was added to gene: ALPK1. Tag Q4_21_NHS_review tag was added to gene: ALPK1. |
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| Optic neuropathy v2.52 | ALPK1 | Ivone Leong Publications for gene: ALPK1 were set to PMID: 30967659; 31053777; 31939038; 34159509 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.51 | ALPK1 |
Neringa Jurkute changed review comment from: Recurrent variant has been reported in affected individuals from 9 unrelated families. Affected individual shared overlapping phenotype with retinal dystrophy, chronic disc swelling observed in majority of cases. Sources: Literature, Research, Other; to: Recurrent variant has been reported in affected individuals from 9 unrelated families. Affected individuals shared overlapping phenotype with retinal changes, chronic disc swelling observed in majority of cases. OMIM: 614979 PMID: 30967659; 31053777; 31939038; 34159509 Sources: Literature, Research, Other |
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| Optic neuropathy v2.51 | ALPK1 |
Neringa Jurkute changed review comment from: Recurrent variant has been reported in affected individuals from 9 unrelated families. Affected individual shared overlapping phenotype with retinal dystrophy, chronic disc swelling observed in majority of cases. Sources: Literature, Research, Other; to: Recurrent variant has been reported in affected individuals from 9 unrelated families. Affected individual shared overlapping phenotype with retinal dystrophy, chronic disc swelling observed in majority of cases. Sources: Literature, Research, Other |
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| Optic neuropathy v2.51 | ALPK1 |
Neringa Jurkute gene: ALPK1 was added gene: ALPK1 was added to Optic neuropathy. Sources: Literature,Research,Other Mode of inheritance for gene: ALPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ALPK1 were set to PMID: 30967659; 31053777; 31939038; 34159509 Phenotypes for gene: ALPK1 were set to Retinopathy; Optic disc swelling; Splenomegaly; Pancytopenia; Headaches; ocular inflammation. Mode of pathogenicity for gene: ALPK1 was set to Other Review for gene: ALPK1 was set to GREEN Added comment: Recurrent variant has been reported in affected individuals from 9 unrelated families. Affected individual shared overlapping phenotype with retinal dystrophy, chronic disc swelling observed in majority of cases. Sources: Literature, Research, Other |
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