Early onset or syndromic epilepsy
Gene: ASTN1
Comment on list classification: Epilepsy only reported in a single patient. Further cases required to ascertain the contribution of ASTN1 variants to this phenotype.Created: 24 Jul 2020, 10:23 a.m. | Last Modified: 24 Jul 2020, 10:23 a.m.
Panel Version: 2.127
Not associated with any phenotype in OMIM or G2P. Homozygous ASTN1 variants identified in three families, all as part of large screening studies of ID and related disorders.
PMID: 26539891 (2015) - Two affected sibs with ID and partial corpus callosum agenesis, born to consanguineous Turkish parents (second-degree cousins). The ASTN1 variant (c.G2224C; p.G742R) segregated with the phenotype (but testing in a third, unaffected sib was not performed).
PMID - 27431290 (2016) - Large screening study of patients with ID/DD. Authors state that likely causal variants were identified in ASTN1, supporting candidacy on the basis of the previous report. However, it was not possible to map this finding to a specific case/variant based on the published data.
PMID - 29706646 (2018) - Compound heterozygous variants ([c.3283A>C, p.Met1095Leu];[c.2770C>T, p.His924Tyr]) identified in a Polish patient with diffuse polymicrogyria, spastic tetraplegia, epilepsy and DD.Created: 24 Jul 2020, 10:15 a.m. | Last Modified: 24 Jul 2020, 10:15 a.m.
Panel Version: 2.126
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability
Publications
Three families reported as part of large cohorts albeit proposing multiple novel candidate genes with minimal detail and no functional validation.
Sources: Expert listCreated: 7 Jan 2020, 8 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability; epilepsy; cortical malformations
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: astn1 has been classified as Red List (Low Evidence).
gene: ASTN1 was added gene: ASTN1 was added to Genetic epilepsy syndromes. 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; epilepsy; cortical malformations Review for gene: ASTN1 was set to GREEN gene: ASTN1 was marked as current diagnostic