Activity
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9 actions
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| Intellectual disability v3.1511 | SFXN4 | Arina Puzriakova Tag for-review was removed from gene: SFXN4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1510 | SFXN4 | Sarah Leigh commented on gene: SFXN4: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1509 | SFXN4 |
Arina Puzriakova Source Expert Review Green was added to SFXN4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability v3.230 | SFXN4 | Sarah Leigh Classified gene: SFXN4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.230 | SFXN4 | Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 5 variants reported in at least 3 unreleated cases, with mild to severe intellectual disability. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.230 | SFXN4 | Sarah Leigh Gene: sfxn4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.229 | SFXN4 | Sarah Leigh Tag for-review tag was added to gene: SFXN4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.229 | SFXN4 | Sarah Leigh Phenotypes for gene: SFXN4 were changed from Combined oxidative phosphorylation deficiency 18, MIM#615578 to Combined oxidative phosphorylation deficiency 18 615578 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.3 | SFXN4 |
Zornitza Stark gene: SFXN4 was added gene: SFXN4 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: SFXN4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SFXN4 were set to 31059822; 24119684 Phenotypes for gene: SFXN4 were set to Combined oxidative phosphorylation deficiency 18, MIM#615578 Review for gene: SFXN4 was set to GREEN gene: SFXN4 was marked as current diagnostic Added comment: Three unrelated families reported, mild ID as well as other neurological features are part of the phenotype. Sources: Expert list |
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