Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Intellectual disability syndromic and non-syndromic v0.4341 RAB11A Zornitza Stark Classified gene: RAB11A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4341 RAB11A Zornitza Stark Gene: rab11a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4340 RAB11A Zornitza Stark edited their review of gene: RAB11A: Added comment: Two additional cases reported in PMID 33875846.; Changed rating: GREEN; Changed publications: 29100083, 33875846
Intellectual disability syndromic and non-syndromic v0.1657 RAB11A Zornitza Stark Marked gene: RAB11A as ready
Intellectual disability syndromic and non-syndromic v0.1657 RAB11A Zornitza Stark Gene: rab11a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1657 RAB11A Zornitza Stark Classified gene: RAB11A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1657 RAB11A Zornitza Stark Gene: rab11a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1656 RAB11A Zornitza Stark gene: RAB11A was added
gene: RAB11A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RAB11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB11A were set to 29100083
Phenotypes for gene: RAB11A were set to Intellectual disability; seizures
Review for gene: RAB11A was set to AMBER
Added comment: Five individuals reported with DNMs and neurodevelopmental phenotypes as part of this paper; however, clinical details are sparse. Emerging gene, phenotype not yet clearly delineated.
Sources: Literature