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| Mendeliome v1.3362 | NFXL1 |
Lucy Spencer gene: NFXL1 was added gene: NFXL1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: NFXL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NFXL1 were set to 40430072; 41024252 Phenotypes for gene: NFXL1 were set to Syndromic disease (MONDO:0002254), NFXL1-related Review for gene: NFXL1 was set to AMBER Added comment: PMID: 40430072 2 siblings with psychosis and schizophrenia, homozygous for Cys441Tyr. Some modelling suggested a deleterious affect but no functional studies performed. PMID: 41024252 8 patients from 7 families with joint hyperlaxity, with or without short stature and renal disease. 6 families were homozygous for p.(Cys539Trpfs*64) while the other two were homozygous for p.(Lys681*). Paper described both as founder variants but they are rare/absent in gnomad. Joint hyperlaxity (7), chronic kidney disease/FSGS (2) small echogenic kidneys (3), acute kidney injury (1), dysmorphic features (6), short stature (6), speech delay (3). One patient also had epilepsy, developmental delay and spasticity however c.728+1G>A in WDR45 explained this part of her phenotype. Other patients also had more severe outlying symptoms with no other explanation mentioned: 1 with developmental delay, hearing loss, brain malformations, skeletal abnormalities, and another a 3 year old who passed away following a complex medical course including blue sclera, proximal tibial fracture, severe respiratory distress due to a chest infection, and acute kidney injury. Amber given the variable phenotype findings of the reported patients and only 2 homozygous variants identified so far Sources: Literature |
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