| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Callosome v1.6 | ASTN1 | Zornitza Stark Marked gene: ASTN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v1.6 | ASTN1 | Zornitza Stark Gene: astn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v1.6 | ASTN1 | Zornitza Stark Phenotypes for gene: ASTN1 were changed from to Neurodevelopmental disorder (MONDO:0700092), ASTN1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v1.5 | ASTN1 | Zornitza Stark Publications for gene: ASTN1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v1.4 | ASTN1 | Zornitza Stark Mode of inheritance for gene: ASTN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v1.3 | ASTN1 | Zornitza Stark edited their review of gene: ASTN1: Added comment: PMID 41544630 reports 18 individuals with NDDs from 12 unrelated families with bi-allelic, ultra-rare, predicted damaging variants in ASTN1. Clinical features ranged from mild to profound developmental delay or intellectual disability +/- autism, ADHD, and epilepsy. Other recurrent abnormalities included dysmorphic facial features, hypotonia, spasticity, and ataxia. The neuroradiographic phenotype ranged from normal to mild (a thin corpus callosum and cerebellar dysgenesis), to severe (polymicrogyria and lissencephaly).; Changed publications: 29706646, 27431290, 26539891, 41544630; Changed phenotypes: Neurodevelopmental disorder (MONDO:0700092), ASTN1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v1.0 | ASTN1 | Gene migrated from ENSG00000152092 to ENSG00000152092 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.0 | ASTN1 |
Zornitza Stark gene: ASTN1 was added gene: ASTN1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ASTN1 was set to Unknown |
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