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| Ophthalmological ciliopathies v5.13 | MDM1 | Arina Puzriakova Classified gene: MDM1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ophthalmological ciliopathies v5.13 | 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ophthalmological ciliopathies v5.13 | MDM1 | Arina Puzriakova Gene: mdm1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ophthalmological ciliopathies v5.12 | MDM1 | Arina Puzriakova Tag Q1_26_promote_green tag was added to gene: MDM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ophthalmological ciliopathies v5.12 | MDM1 | Arina Puzriakova Entity copied from Retinal disorders v8.87 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ophthalmological ciliopathies v5.12 | MDM1 |
Arina Puzriakova gene: MDM1 was added gene: MDM1 was added to Ophthalmological ciliopathies. Sources: Literature new-gene-name tags were added to gene: MDM1. Mode of inheritance for gene: MDM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MDM1 were set to 41742423 Phenotypes for gene: MDM1 were set to Retinal dystrophy, HP:0000556 Penetrance for gene: MDM1 were set to unknown Mode of pathogenicity for gene: MDM1 was set to Other |
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