| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.2743 | ASTN1 | Zornitza Stark Marked gene: ASTN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2743 | ASTN1 | Zornitza Stark Gene: astn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2743 | ASTN1 | Zornitza Stark Publications for gene: ASTN1 were set to 29706646; 11861479 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2742 | ASTN1 | Zornitza Stark Classified gene: ASTN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2742 | ASTN1 | Zornitza Stark Gene: astn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2728 | ASTN1 | Krithika Murali reviewed gene: ASTN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27431290, 26539891, 29706646, 11861479; Phenotypes: Polymicrogyria, hypoplastic corpus callosum; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2724 | ASTN1 | Krithika Murali Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2722 | ASTN1 |
Krithika Murali gene: ASTN1 was added gene: ASTN1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ASTN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASTN1 were set to 29706646; 11861479 Phenotypes for gene: ASTN1 were set to Polymicrogyria; hypoplastic corpus callosum Review for gene: ASTN1 was set to AMBER Added comment: No OMIM gene disease association. No updated evidence since previous PanelApp review April 2020. PMID 29706646 - Wiszniewski et al 2018 - genomic analysis of individuals with disorders of cortical development. Identified one individual with compound het ASTN1 variants with diffuse polymicrogyria, spastic tetraplegia, epilepsy and developmental delay. Second consanguineous family with two sisters with homozygous missense variant in ASTN1 had hypoplastic corpus callosum. Animal model demonstrates abnormal neuronal migration in Astn1-/- deficient mice (PMID 11861479). Sources: Literature |
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