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| Mendeliome v2.462 | MORF4L1 | Zornitza Stark Marked gene: MORF4L1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.462 | MORF4L1 | Zornitza Stark Gene: morf4l1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.462 | MORF4L1 |
Zornitza Stark gene: MORF4L1 was added gene: MORF4L1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: MORF4L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MORF4L1 were set to 42457791 Phenotypes for gene: MORF4L1 were set to Neurodevelopmental disorder, MONDO:0700092, MORF4L1-related Review for gene: MORF4L1 was set to RED Added comment: PMID 42457791 reports two individuals from a single family with a homozygous missense MORF4L1 variant (c.491T>C, p.Leu164Pro) presenting with a neurodevelopmental disorder characterised by trigonocephaly, dysmorphic facial features, global developmental delay, obesity and multi‑system anomalies. The variant is absent from gnomAD, and causes ~99 % reduction of MORF4L1 protein in patient fibroblasts; zebrafish loss‑of‑function mutants recapitulate growth restriction and skeletal defects, although knock‑in models appear phenotypically normal. Sources: Literature |
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