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| Likely inborn error of metabolism - targeted testing not possible v1.140 | GLUL | Sarah Leigh Classified gene: GLUL as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.140 | GLUL |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 3 variants reported in unrelated cases. |
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| Likely inborn error of metabolism - targeted testing not possible v1.140 | GLUL | Sarah Leigh Gene: glul has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.139 | GLUL | Sarah Leigh Publications for gene: GLUL were set to 27604308; 16267323; 21353613 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.139 | GLUL | Sarah Leigh Publications for gene: GLUL were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.138 | GLUL | Sarah Leigh Added comment: Comment on phenotypes: Intellectual disability;Glutamine deficiency, congenital (Other disorder of amino acid metabolism) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.138 | GLUL | Sarah Leigh Phenotypes for gene: GLUL were changed from Intellectual disability; Glutamine deficiency, congenital (Other disorder of amino acid metabolism) to Glutamine deficiency, congenital 610015 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | GLUL |
Ivone Leong Source NHS GMS was added to GLUL. Source London North GLH was added to GLUL. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | GLUL |
Ellen McDonagh gene: GLUL was added gene: GLUL was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: GLUL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLUL were set to 27604308 Phenotypes for gene: GLUL were set to Intellectual disability; Glutamine deficiency, congenital (Other disorder of amino acid metabolism) |
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