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| Retinal disorders v2.243 | TMEM231 | Ivone Leong Tag for-review was removed from gene: TMEM231. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.243 | TMEM231 | Ivone Leong commented on gene: TMEM231: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.243 | TMEM231 |
Ivone Leong Source Expert Review Green was added to TMEM231. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v2.148 | TMEM231 | Ivone Leong Classified gene: TMEM231 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.148 | TMEM231 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.148 | TMEM231 | Ivone Leong Gene: tmem231 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.147 | TMEM231 | Ivone Leong Tag for-review tag was added to gene: TMEM231. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.147 | TMEM231 | Ivone Leong Phenotypes for gene: TMEM231 were changed from Joubert syndrome 20 MIM#614970 to Joubert syndrome 20, OMIM:614970 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.20 | TMEM231 |
Zornitza Stark gene: TMEM231 was added gene: TMEM231 was added to Retinal disorders. Sources: Expert list Mode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM231 were set to 23012439; 27449316 Phenotypes for gene: TMEM231 were set to Joubert syndrome 20 MIM#614970 Review for gene: TMEM231 was set to GREEN Added comment: Three unrelated families reported with retinopathy as a feature of the condition. Sources: Expert list |
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