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Early onset or syndromic epilepsy v8.111 ASTN1 Ida Ertmanska changed review comment from: Comment on list classification: Comment on list classification: There are more than 3 unrelated individuals reported with biallelic ASTN1 variants and a neurodevelopmental disorder. 11 patients were reported to have seizures and/or epileptiform activity on EEG. Based on available evidence, this gene should be promoted to Green for Early onset or syndromic epilepsy.; to: Comment on list classification: Comment on list classification: There are more than 3 unrelated individuals reported with biallelic ASTN1 variants and a neurodevelopmental disorder. 11 patients were reported to have seizures and/or epileptiform activity on EEG (PMIDs: 29706646; 41544630). Based on available evidence, this gene should be promoted to Green for Early onset or syndromic epilepsy.
Early onset or syndromic epilepsy v8.111 ASTN1 Ida Ertmanska Phenotypes for gene: ASTN1 were changed from Intellectual disability; epilepsy; cortical malformations to neurodevelopmental disorder, MONDO:0700092
Early onset or syndromic epilepsy v8.110 ASTN1 Ida Ertmanska Publications for gene: ASTN1 were set to 29706646; 27431290; 26539891
Early onset or syndromic epilepsy v8.109 ASTN1 Ida Ertmanska Classified gene: ASTN1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v8.109 ASTN1 Ida Ertmanska Added comment: Comment on list classification: Comment on list classification: There are more than 3 unrelated individuals reported with biallelic ASTN1 variants and a neurodevelopmental disorder. 11 patients were reported to have seizures and/or epileptiform activity on EEG. Based on available evidence, this gene should be promoted to Green for Early onset or syndromic epilepsy.
Early onset or syndromic epilepsy v8.109 ASTN1 Ida Ertmanska Gene: astn1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v8.108 ASTN1 Ida Ertmanska Tag Q1_26_promote_green tag was added to gene: ASTN1.
Early onset or syndromic epilepsy v8.108 ASTN1 Ida Ertmanska edited their review of gene: ASTN1: Changed rating: GREEN; Changed publications to: 41544630; Changed phenotypes to: neurodevelopmental disorder, MONDO:0700092; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v8.108 ASTN1 Ida Ertmanska commented on gene: ASTN1
Early onset or syndromic epilepsy v2.128 ASTN1 Arina Puzriakova edited their review of gene: ASTN1: Changed rating: RED
Early onset or syndromic epilepsy v2.127 ASTN1 Arina Puzriakova Classified gene: ASTN1 as Red List (low evidence)
Early onset or syndromic epilepsy v2.127 ASTN1 Arina Puzriakova Added comment: Comment on list classification: Epilepsy only reported in a single patient. Further cases required to ascertain the contribution of ASTN1 variants to this phenotype.
Early onset or syndromic epilepsy v2.127 ASTN1 Arina Puzriakova Gene: astn1 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v2.126 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
Early onset or syndromic epilepsy v2.0 ASTN1 Zornitza Stark gene: ASTN1 was added
gene: ASTN1 was added to Genetic epilepsy syndromes. 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; epilepsy; cortical malformations
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