Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

Gene: ASTN1

Amber List (moderate evidence)

ASTN1 (astrotactin 1)
EnsemblGeneIds (GRCh38): ENSG00000152092
EnsemblGeneIds (GRCh37): ENSG00000152092
OMIM: 600904, Gene2Phenotype
ASTN1 is in 6 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

I don't know

No OMIM gene disease association. Borderline amber-green gene. No updated evidence since last 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).

27431290 and 26539891 - two other families reported as part of large cohorts proposing multiple novel candidate genes. Minimal phenotypic detail and no functional validation.
Created: 24 Jan 2022, 6:19 a.m. | Last Modified: 24 Jan 2022, 6:19 a.m.
Panel Version: 0.2728

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polymicrogyria; hypoplastic corpus callosum

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Polymicrogyria
  • hypoplastic corpus callosum
OMIM
600904
Clinvar variants
Variants in ASTN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jan 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: astn1 has been classified as Amber List (Moderate Evidence).

24 Jan 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ASTN1 were set to 29706646; 11861479

24 Jan 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: astn1 has been classified as Amber List (Moderate Evidence).

24 Jan 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

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