Activity
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10 actions
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| Retinal disorders v8.88 | MDM1 | Arina Puzriakova Tag Q1_26_NHS_review tag was added to gene: MDM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.88 | MDM1 | Arina Puzriakova Classified gene: MDM1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.88 | MDM1 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - 5 unrelated cases with retinal dystrophy due to biallelic variants in this gene. Localisation in cilia indicate that MDM1 variants are associated with a first-order ciliopathy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.88 | MDM1 | Arina Puzriakova Gene: mdm1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.87 | MDM1 | Arina Puzriakova Tag Q1_26_promote_green tag was added to gene: MDM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.87 | MDM1 |
Arina Puzriakova Phenotypes for gene: MDM1 were changed from Retinal dystrophy to Retinal dystrophy, HP:0000556 Publications for gene: MDM1 were updated from PMID: 41742423 to 41742423 |
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| Retinal disorders v8.86 | MDM1 |
Arina Puzriakova edited their review of gene: MDM1: Added comment: PMID: 41742423 (2026) - 6 individuals from 5 unrelated families with biallelic predicted null variants in MDM1 (aka SAXO6). Ophthalmic examination revealed retinitis pigmentosa in 4 individuals and cone-rod dystrophy in 2 individuals. SAXO6 was shown to co-localise with distinct ciliary microtubules from the immotile cilium present in rod and cone photoreceptors in human retina, and mass spectrometry demonstrated an interaction with α-tubulin, supporting its classification as a microtubule inner protein. This gene is not yet associated with any phenotype in OMIM or G2P.; Changed rating: GREEN; Changed publications to: 41742423; Changed phenotypes to: Retinal dystrophy, HP:0000556; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal |
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| Retinal disorders v8.86 | MDM1 | Arina Puzriakova commented on gene: MDM1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.86 | MDM1 | Arina Puzriakova Tag new-gene-name tag was added to gene: MDM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.86 | MDM1 |
Siying Lin gene: MDM1 was added gene: MDM1 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: MDM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MDM1 were set to PMID: 41742423 Phenotypes for gene: MDM1 were set to Retinal dystrophy Penetrance for gene: MDM1 were set to unknown Mode of pathogenicity for gene: MDM1 was set to Other Review for gene: MDM1 was set to GREEN Added comment: Recent publication (PMID: 41742423) reporting 6 affected individuals from 5 families with biallelic loss of function variants in MDM1 (also known as SAXO6) and retinal dystrophy Sources: Literature |
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