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| Intellectual disability syndromic and non-syndromic v0.5637 | RAB1A | Zornitza Stark Phenotypes for gene: RAB1A were changed from neurodevelopmental disorder MONDO:0700092, CASP2-related to neurodevelopmental disorder MONDO:0700092, RAB1A-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5636 | RAB1A | Zornitza Stark Classified gene: RAB1A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5636 | RAB1A | Zornitza Stark Gene: rab1a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5631 | RAB1A |
Chris Ciotta gene: RAB1A was added gene: RAB1A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: RAB1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAB1A were set to PMID: 37924809 Phenotypes for gene: RAB1A were set to neurodevelopmental disorder MONDO:0700092, CASP2-related Review for gene: RAB1A was set to AMBER Added comment: 4 families and 5 individuals, 2/5 have speech delay and 4/5 have motor delay. Anxiety in 3/5 and autism in 2/5. Microcephaly in only one individual, spastic paraplegia observed in 2 individuals from one family. In 2 families variants were inherited from an affected parent. Sources: Literature |
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