| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v1.4255 | ALDH6A1 |
Sangavi Sivagnanasundram changed review comment from: Classified as LIMITED by ClinGen Aminoacidopathy GCEP on 15/01/2026 - https://search.clinicalgenome.org/CCID:004096 ClinGen reports the same 5 probands mentioned below with biochemical abnormalities. Their reasoning for classifying this GDA as limited is: "There is the question of whether the additional symptoms of some individuals are related to this disorder, although that is unrelated to the biochemical abnormality and the response to modified diet seems to indicate a connection." Given the biochemical abnormality, gene remain as GREEN.; to: Classified as LIMITED by ClinGen Aminoacidopathy GCEP on 09/01/2026 - https://search.clinicalgenome.org/CCID:004096 ClinGen reports the same 5 probands mentioned below with biochemical abnormalities. Their reasoning for classifying this GDA as limited is: "There is the question of whether the additional symptoms of some individuals are related to this disorder, although that is unrelated to the biochemical abnormality and the response to modified diet seems to indicate a connection." Given the biochemical abnormality, gene remain as GREEN. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4255 | ALDH6A1 | Sangavi Sivagnanasundram reviewed gene: ALDH6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004096; Phenotypes: methylmalonate semialdehyde dehydrogenase deficiency MONDO:0013579; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12508 | ALDH6A1 | Elena Savva Marked gene: ALDH6A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12508 | ALDH6A1 | Elena Savva Gene: aldh6a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12507 | ALDH6A1 | Elena Savva Phenotypes for gene: ALDH6A1 were changed from to Methylmalonate semialdehyde dehydrogenase deficiency MIM#614105; disorder of valine and pyrimidine metabolism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12506 | ALDH6A1 | Elena Savva Publications for gene: ALDH6A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12506 | ALDH6A1 | Elena Savva Mode of inheritance for gene: ALDH6A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | ALDH6A1 |
Zornitza Stark gene: ALDH6A1 was added gene: ALDH6A1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ALDH6A1 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||