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Genetic epilepsy syndromes

Gene: ASTN1

No list

ASTN1 (astrotactin 1)
EnsemblGeneIds (GRCh38): ENSG00000152092
EnsemblGeneIds (GRCh37): ENSG00000152092
OMIM: 600904, Gene2Phenotype
ASTN1 is in 2 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three families reported as part of large cohorts albeit proposing multiple novel candidate genes with minimal detail and no functional validation.
Sources: Expert list
Created: 7 Jan 2020, 8 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Intellectual disability; epilepsy; cortical malformations


Variants in this GENE are reported as part of current diagnostic practice


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability
  • epilepsy
  • cortical malformations
Clinvar variants
Variants in ASTN1
Panels with this gene

History Filter Activity

7 Jan 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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