Polymicrogyria and Schizencephaly
Gene: ASTN1EnsemblGeneIds (GRCh38): ENSG00000152092
EnsemblGeneIds (GRCh37): ENSG00000152092
OMIM: 600904, Gene2Phenotype
ASTN1 is in 6 panels
1 review
Lauren Akesson (Royal Melbourne Hospital)
Report of one individual with diffuse polymicrogyria, spastic tetraplegia, epilepsy and developmental delay with compound heterozygous missense variants in ASTN1. 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).Created: 21 Apr 2020, 1:12 a.m. | Last Modified: 21 Apr 2020, 1:12 a.m.
Panel Version: 0.33
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polymicrogyria; hypoplastic corpus callosum
Publications
- PMID 29706646
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Victorian Clinical Genetics Services
- Australian Genomics Health Alliance Brain Malformations Flagship
- Phenotypes
-
- Polymicrogyria
- hypoplastic corpus callosum
- OMIM
- 600904
- Clinvar variants
- Variants in ASTN1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: astn1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ASTN1 were changed from to Polymicrogyria; hypoplastic corpus callosum
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ASTN1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: ASTN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: astn1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ASTN1 was added gene: ASTN1 was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: ASTN1 was set to Unknown