Activity
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12 actions
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| Intellectual disability v9.250 | ASTN1 | Ida Ertmanska commented on gene: ASTN1: Comment on list classification: There are more than 3 unrelated individuals reported with biallelic ASTN1 variants and a neurodevelopmental disorder. All reported individuals presented with developmental delay and/or intellectual disability, with variable severity. Based on available evidence, this gene should be promoted to Green for Intellectual disability. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.250 | ASTN1 | Ida Ertmanska Phenotypes for gene: ASTN1 were changed from neurodevelopmental disorder, MONDO:0700092 to neurodevelopmental disorder, MONDO:0700092 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.249 | ASTN1 | Ida Ertmanska Phenotypes for gene: ASTN1 were changed from Intellectual disability to neurodevelopmental disorder, MONDO:0700092 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.249 | ASTN1 | Ida Ertmanska Publications for gene: ASTN1 were set to 29706646; 27431290; 26539891 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.248 | ASTN1 |
Ida Ertmanska Tag watchlist was removed from gene: ASTN1. Tag Q1_26_promote_green tag was added to gene: ASTN1. |
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| Intellectual disability v9.248 | ASTN1 | Ida Ertmanska reviewed gene: ASTN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 41544630; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.182 | ASTN1 | Arina Puzriakova Tag watchlist tag was added to gene: ASTN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.182 | ASTN1 | Arina Puzriakova Classified gene: ASTN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.182 | ASTN1 | Arina Puzriakova Added comment: Comment on list classification: As limited segregation and case-specific details for the individual identified in the second study (PMID:27431290), rating Amber until further cases reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.182 | ASTN1 | Arina Puzriakova Gene: astn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.181 | ASTN1 | Arina Puzriakova reviewed gene: ASTN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26539891, 27431290, 29706646; Phenotypes: Intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | ASTN1 |
Zornitza Stark gene: ASTN1 was added gene: ASTN1 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: ASTN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASTN1 were set to 29706646; 27431290; 26539891 Phenotypes for gene: ASTN1 were set to Intellectual disability Review for gene: ASTN1 was set to GREEN gene: ASTN1 was marked as current diagnostic Added comment: Three families reported as part of large cohorts albeit proposing multiple novel candidate genes with minimal detail and no functional validation. Sources: Expert list |
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