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| Retinal disorders v4.24 | ALPK1 | Sarah Leigh reviewed gene: ALPK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.24 | ALPK1 | Sarah Leigh Publications for gene: ALPK1 were set to 30967659; 31939038; 31053777; 34159509 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.243 | ALPK1 |
Ivone Leong Tag for-review was removed from gene: ALPK1. Tag Q4_21_NHS_review was removed from gene: ALPK1. |
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| Retinal disorders v2.243 | ALPK1 | Ivone Leong commented on gene: ALPK1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.243 | 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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| Retinal disorders v2.239 | ALPK1 | Ivone Leong Tag Q4_21_NHS_review tag was added to gene: ALPK1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.239 | ALPK1 | Ivone Leong Added comment: Comment on publications: Added new publication (PMID:31053777;34159509). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.239 | ALPK1 | Ivone Leong Publications for gene: ALPK1 were set to 30967659; 31939038 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.236 | ALPK1 |
Neringa Jurkute changed review comment from: Recurrent variant has been reported in affected individuals from 9 unrelated families. Affected individuals shared overlapping phenotype with retinal dystrophy, chronic disc swelling observed in majority of cases. PMID: 30967659; 31053777; 31939038; 34159509; 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 |
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| Retinal disorders v2.236 | 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. PMID: 30967659; 31053777; 31939038; 34159509; to: Recurrent variant has been reported in affected individuals from 9 unrelated families. Affected individuals shared overlapping phenotype with retinal dystrophy, chronic disc swelling observed in majority of cases. PMID: 30967659; 31053777; 31939038; 34159509 |
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| Retinal disorders v2.236 | ALPK1 | Neringa Jurkute reviewed gene: ALPK1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30967659, 31053777, 31939038, 34159509; Phenotypes: Retinal dystrophy, optic disc swelling, splenomegaly, headaches, ocular inflammation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.50 | ALPK1 | Ivone Leong Classified gene: ALPK1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.50 | ALPK1 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association; therefore, this gene has been given an Amber rating and should be promoted to Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.50 | ALPK1 | Ivone Leong Gene: alpk1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.49 | ALPK1 | Ivone Leong Tag for-review tag was added to gene: ALPK1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.49 | ALPK1 | Ivone Leong Phenotypes for gene: ALPK1 were changed from ROSAH syndrome; retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache to ROSAH syndrome, OMIM:614979 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.17 | ALPK1 |
Zornitza Stark gene: ALPK1 was added gene: ALPK1 was added to Retinal 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 30967659; 31939038 Phenotypes for gene: ALPK1 were set to ROSAH syndrome; retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache Review for gene: ALPK1 was set to GREEN gene: ALPK1 was marked as current diagnostic Added comment: Six unrelated families reported with same recurrent missense variant c.710C>T, (p.Thr237Met). Pancytopaenia and recurrent infections present in some. Sources: Expert list |
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