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| Intellectual disability syndromic and non-syndromic v1.319 | RAB14 | Zornitza Stark Phenotypes for gene: RAB14 were changed from Developmental disorders to Neurodevelopmental disorder MONDO:0700092, RAB14-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.318 | RAB14 | Zornitza Stark edited their review of gene: RAB14: Changed phenotypes: Neurodevelopmental disorder MONDO:0700092, RAB14-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.3160 | RAB14 | Zornitza Stark Marked gene: RAB14 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.3160 | RAB14 | Zornitza Stark Gene: rab14 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.3160 | RAB14 | Zornitza Stark Classified gene: RAB14 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.3160 | RAB14 | Zornitza Stark Gene: rab14 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.3159 | RAB14 |
Zornitza Stark gene: RAB14 was added gene: RAB14 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: RAB14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAB14 were set to 33057194 Phenotypes for gene: RAB14 were set to Developmental disorders Review for gene: RAB14 was set to AMBER Added comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 8 de novo variants (1 in-frame, 7 missense) identified in ~10,000 cases with developmental disorders (no other phenotype info provided hence Amber rating). Sources: Literature |
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