| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v1.4873 | MDGA1 | Chirag Patel Classified gene: MDGA1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4873 | MDGA1 | Chirag Patel Gene: mdga1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4873 | MDGA1 | Chirag Patel Classified gene: MDGA1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4873 | MDGA1 | Chirag Patel Gene: mdga1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4873 | MDGA1 | Chirag Patel Classified gene: MDGA1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4873 | MDGA1 | Chirag Patel Gene: mdga1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4872 | MDGA1 | Chirag Patel Classified gene: MDGA1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4872 | MDGA1 | Chirag Patel Gene: mdga1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4871 | MDGA1 | Chirag Patel Marked gene: MDGA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4871 | MDGA1 | Chirag Patel Gene: mdga1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4871 | MDGA1 |
Chirag Patel gene: MDGA1 was added gene: MDGA1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: MDGA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MDGA1 were set to 41862769; 40585099 Phenotypes for gene: MDGA1 were set to Neurodevelopmental disorder, MONDO:0700092, MDGA1-related Review for gene: MDGA1 was set to AMBER gene: MDGA1 was marked as current diagnostic Added comment: 4 individuals from 2 unrelated families with biallelic missense variants in MDGA1 presenting with autism spectrum disorder, intellectual disability, and mild dysmorphic features. Functional assays in human hippocampal neurons demonstrate that the variants disrupt the triangular extracellular structure of the protein and cause loss-of-function in the negative regulation of GABAergic synapses. Additionally, Mdga1 male knock-in (KI) and conditional male knockout (cKO) mouse models recapitulate social and communicative deficits, with behavioral and electrophysiological deficits in male KI mice being rescued by Bazedoxifene. No behavioral deficits were seen in female counterparts. But authors state that extensive future validation in larger human cohorts, including functional studies of patient-derived cells, is needed to establish utility as a reliable diagnostic biomarker. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||