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| Mendeliome v2.505 | GLYR1 | Lucy Spencer Classified gene: GLYR1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.505 | GLYR1 | Lucy Spencer Gene: glyr1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.504 | GLYR1 |
Lucy Spencer gene: GLYR1 was added gene: GLYR1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: GLYR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GLYR1 were set to 35182466; 38070486 Phenotypes for gene: GLYR1 were set to Congenital heart disease (MONDO:0005453), GLYR1-related Review for gene: GLYR1 was set to AMBER Added comment: PMID 35182466 reports 1 individual with a de novo heterozygous missense GLYR1 p.P496L variant causing congenital heart disease with atrioventricular septal defects, left‑ventricular outflow tract obstruction and pulmonary stenosis. Functional assays including co‑immunoprecipitation, and a luciferase reporter assay demonstrated loss‑of‑function effects. In a mouse knock‑in model 54% of homozygous P496L mice and 15.5% of heterozygous mice had postnatal lethality between days 0-1, while for WT mice it was only 4.4, and VSD was seen in 15% of homozygous mice. PMID 38070486 reports 4 individuals from 1 family harbouring a heterozygous frameshift GLYR1 c.1132delA p.R378Gfs*23 variant presenting with atrial and ventricular septal defects, arrhythmia and pulmonary hypertension. The variant segregated with disease in 4 affected individuals and was not present in 1 unaffected family member. However this variant has 74 heterozygotes in gnomad v4 and while it is predicted to undergo NMD a western blot in this paper suggests it creates a truncated protein. Sources: Literature |
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