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| Autism v0.175 | SLC9A9 | Zornitza Stark Classified gene: SLC9A9 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.175 | SLC9A9 | Zornitza Stark Gene: slc9a9 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.174 | SLC9A9 |
Zornitza Stark changed review comment from: Several families and animal model data. Sources: Expert list; to: DISPUTED by ClinGen: SLC9A9 was first reported in relation to autism spectrum disorder in 2008 (Morrow et al., 2008 PMID: 18621663). A homozygous deletion upstream of SLC9A9 (also known as NHE9) as well as several heterozygous variants (one nonsense and several missense) were reported in this gene; the sequence variants were later found to have high population frequencies in gnomAD. According to gnomAD (v.2.1.1), SLC9A9 is not constrained for loss of function variants (pLI=0) or missense variants (z-score=-0.25). Previously, a pericentric inversion of chromosome 3 disrupting SLC9A9 was reported in an extended pedigree with intellectual disability and behavioral problems (PMID: 14569117). The other inversion breakpoint affected DOCK3, a brain-expressed gene involved in neurodevelopmental disorders, and the inversion did not always segregate with the phenotype, therefore this family was not scored. An inherited exonic deletion of SLC9A9 is reported in an individual with autism spectrum disorder and epilepsy (PMID: 27123481). Two nonsense variants in individuals with autism spectrum disorder, including one reported several times in gnomAD are reported in PMID: 26185613. Overall, variants are inherited and/or at high pop frequency, not consistent with Mendelian disease. |
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| Autism v0.174 | SLC9A9 | Zornitza Stark edited their review of gene: SLC9A9: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.69 | SLC9A9 | Zornitza Stark Marked gene: SLC9A9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.69 | SLC9A9 | Zornitza Stark Gene: slc9a9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.69 | SLC9A9 | Zornitza Stark Classified gene: SLC9A9 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.69 | SLC9A9 | Zornitza Stark Gene: slc9a9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.68 | SLC9A9 |
Zornitza Stark gene: SLC9A9 was added gene: SLC9A9 was added to Autism. Sources: Expert list Mode of inheritance for gene: SLC9A9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC9A9 were set to 18621663; 31134136; 27123481; 26755066 Phenotypes for gene: SLC9A9 were set to {?Autism susceptibility 16}, MIM# 613410 Review for gene: SLC9A9 was set to GREEN Added comment: Several families and animal model data. Sources: Expert list |
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