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| Aminoacidopathy v1.112 | SLC36A2 | Zornitza Stark Marked gene: SLC36A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.112 | SLC36A2 | Zornitza Stark Gene: slc36a2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.112 | SLC36A2 | Zornitza Stark Classified gene: SLC36A2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.112 | SLC36A2 | Zornitza Stark Gene: slc36a2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.95 | SLC36A2 |
Sangavi Sivagnanasundram gene: SLC36A2 was added gene: SLC36A2 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SLC36A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC36A2 were set to 19033659; 26141664 Phenotypes for gene: SLC36A2 were set to iminoglycinuria MONDO:0009448 Review for gene: SLC36A2 was set to RED Added comment: IG phenotype is due to excess urinary excretion of proline, hydroxyproline and glycine which is thought to be benign. Variants have been reported in individuals with varying phenotypes - One homozygous individual reported with an IG phenotype while some heterozygous individuals reported to have hyperglycinuria. Biochemical abnormalities result in an IG phenotype is not a common clinical feature in the reported individuals. Classified Limitied by Aminoacidopathy GCEP on 11/04/2024 - https://search.clinicalgenome.org/CCID:006183 Sources: ClinGen |
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