Aminoacidopathy
Gene: SLC36A2
SLC36A2 (solute carrier family 36 member 2)
EnsemblGeneIds (GRCh38): ENSG00000186335
EnsemblGeneIds (GRCh37): ENSG00000186335
OMIM: 608331, Gene2Phenotype
SLC36A2 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000186335
EnsemblGeneIds (GRCh37): ENSG00000186335
OMIM: 608331, Gene2Phenotype
SLC36A2 is in 4 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
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: ClinGenCreated: 18 Jul 2024, 12:25 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
iminoglycinuria MONDO:0009448
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- iminoglycinuria MONDO:0009448
- OMIM
- 608331
- Clinvar variants
- Variants in SLC36A2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
18 Jul 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc36a2 has been classified as Red List (Low Evidence).
18 Jul 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc36a2 has been classified as Red List (Low Evidence).
18 Jul 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)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