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| Mendeliome v1.3547 | QSER1 | Zornitza Stark Marked gene: QSER1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3547 | QSER1 | Zornitza Stark Gene: qser1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3547 | QSER1 | Zornitza Stark Classified gene: QSER1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3547 | QSER1 | Zornitza Stark Gene: qser1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3545 | QSER1 |
Sarah Milton gene: QSER1 was added gene: QSER1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: QSER1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: QSER1 were set to PMID: 41139957 Phenotypes for gene: QSER1 were set to Neurodevelopmental disorder, MONDO:0700092, QSER1-related Review for gene: QSER1 was set to AMBER Added comment: QSER1 encodes glutamine and serine rich protein 1 of which the function is not clearly defined however is thought to have a role in methylation. PMID: 41139957 describes 3 individuals with de novo heterozygous variants in QSER1 without clear consistent phenotypes. 2 individuals were born at less than 26 weeks with developmental delay with the individual that was born at term found to have normal development. Other associated features noted were ophthalmologic abnormalities (2), genitourinary abnormalities (2), congenital cardiac abnormalities (2), hemiparesis/gait abnormalities (1), preaxial polydactyly (1). Variant types included frameshift and splice site. One variant was present in 3 hets in gnomAD v4 with the others absent. Functional studies demonstrated widespread expression of the protein in zebrafish without further experiments to examine molecular mechanism of variants or downstream effects. Sources: Literature |
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