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Intellectual disability

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: 29 Jan 2020, 1:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Intellectual disability
OMIM
600904
Clinvar variants
Variants in ASTN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 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 Intellectual disability. 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 Review for gene: ASTN1 was set to GREEN gene: ASTN1 was marked as current diagnostic