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Genetic Epilepsy

Gene: ASTN1

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; 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.
Created: 23 Nov 2019, 8:37 a.m. | Last Modified: 23 Nov 2019, 8:37 a.m.
Panel Version: 0.37

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual disability
  • epilepsy
  • structural brain malformations
OMIM
600904
Clinvar variants
Variants in ASTN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ASTN1 were changed from Intellectual disability; epilepsy; structural brain malformations to Intellectual disability; epilepsy; structural brain malformations

3 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: astn1 has been classified as Green List (High Evidence).

3 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ASTN1 were changed from to Intellectual disability; epilepsy; structural brain malformations

3 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ASTN1 were set to

3 Jan 2020, Gel status: 3

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

17 Nov 2019, Gel status: 3

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 Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ASTN1 was set to Unknown