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Intellectual disability - microarray and sequencing v3.1511 | SLC1A1 | Arina Puzriakova Tag for-review was removed from gene: SLC1A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v3.1510 | SLC1A1 | Sarah Leigh commented on gene: SLC1A1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v3.1509 | SLC1A1 |
Arina Puzriakova Source Expert Review Green was added to SLC1A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Intellectual disability - microarray and sequencing v3.111 | SLC1A1 | Sarah Leigh Publications for gene: SLC1A1 were set to 21123949; 16311588; 16311588 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v3.110 | SLC1A1 | Sarah Leigh Classified gene: SLC1A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v3.110 | SLC1A1 | Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 2 variants reported in 2 unrelated cases (PMID 21123949), a SLC1A1 null mouse model with age-dependent chronic neurodegeneration (PMID 16311588), together with historic reports of intellectual disability associated with the phenotype (PMID 894411). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v3.110 | SLC1A1 | Sarah Leigh Gene: slc1a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v3.109 | SLC1A1 | Sarah Leigh reviewed gene: SLC1A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v3.109 | SLC1A1 | Sarah Leigh Phenotypes for gene: SLC1A1 were changed from Dicarboxylic aminoaciduria 222730 to Dicarboxylic aminoaciduria 222730 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v3.108 | SLC1A1 | Sarah Leigh Tag for-review tag was added to gene: SLC1A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v3.108 | SLC1A1 | Sarah Leigh Phenotypes for gene: SLC1A1 were changed from Dicarboxylic aminoaciduria 222730 to Dicarboxylic aminoaciduria 222730 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v3.107 | SLC1A1 | Sarah Leigh Publications for gene: SLC1A1 were set to 21123949; 21123949 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v3.106 | SLC1A1 | Sarah Leigh Publications for gene: SLC1A1 were set to Dicarboxylic aminoaciduria, MIM#222730 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v3.105 | SLC1A1 | Sarah Leigh Phenotypes for gene: SLC1A1 were changed from to Dicarboxylic aminoaciduria 222730 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v3.3 | SLC1A1 |
Zornitza Stark gene: SLC1A1 was added gene: SLC1A1 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: SLC1A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC1A1 were set to Dicarboxylic aminoaciduria, MIM#222730 Review for gene: SLC1A1 was set to GREEN gene: SLC1A1 was marked as current diagnostic Added comment: ID is part of the phenotype of this metabolic disorder. Sources: Expert list |