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Intellectual disability syndromic and non-syndromic

Gene: ASTN2

Amber List (moderate evidence)

ASTN2 (astrotactin 2)
EnsemblGeneIds (GRCh38): ENSG00000148219
EnsemblGeneIds (GRCh37): ENSG00000148219
OMIM: 612856, Gene2Phenotype
ASTN2 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Candidate gene reported by Anazi et al; rare CNVs also reported; other circumstantial evidence.
Sources: Literature
Created: 21 Sep 2023, 4:34 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder, MONDO:0700092, ASTN2-related

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, ASTN2-related
OMIM
612856
Clinvar variants
Variants in ASTN2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Sep 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: astn2 has been classified as Amber List (Moderate Evidence).

21 Sep 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: astn2 has been classified as Amber List (Moderate Evidence).

21 Sep 2023, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ASTN2 was added gene: ASTN2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: ASTN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ASTN2 were set to 28940097; 34412080; 27138430 Phenotypes for gene: ASTN2 were set to Neurodevelopmental disorder, MONDO:0700092, ASTN2-related Review for gene: ASTN2 was set to AMBER