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| Intellectual disability syndromic and non-syndromic v2.0 | RAB5IF | Gene symbol changed from C20orf24 to RAB5IF during gene set migration (ENSG00000101084 -> ENSG00000101084) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4859 | C20orf24 |
Zornitza Stark gene: C20orf24 was added gene: C20orf24 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature new gene name tags were added to gene: C20orf24. Mode of inheritance for gene: C20orf24 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C20orf24 were set to 35614220; 24194475 Phenotypes for gene: C20orf24 were set to Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2, MIM# 616994 Review for gene: C20orf24 was set to RED Added comment: Bi-allelic LoF variant identified in patient originally reported in PMID 24194475. HGNC approved name is RAB5IF. Sources: Literature |
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