Aminoacidopathy
Gene: SLC1A4EnsemblGeneIds (GRCh38): ENSG00000115902
EnsemblGeneIds (GRCh37): ENSG00000115902
OMIM: 600229, Gene2Phenotype
SLC1A4 is in 10 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Reported in at least 9 individuals with reported biochemical abnormalities involving the L-serine transporter.
Classified Definitive by Aminoacidopathy GCEP on 14/05/2021 - https://search.clinicalgenome.org/CCID:006155
Sources: ClinGenCreated: 17 Jul 2024, 11:45 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome MONDO:0014725
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome MONDO:0014725
- OMIM
- 600229
- Clinvar variants
- Variants in SLC1A4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc1a4 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc1a4 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: SLC1A4 was added gene: SLC1A4 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC1A4 were set to 25930971, 27711071, 29989513, 29652076, 26041762, 27193218, 30125339 Phenotypes for gene: SLC1A4 were set to spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome MONDO:0014725 Review for gene: SLC1A4 was set to GREEN