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| Mendeliome v1.2931 | ARNTL | Zornitza Stark Marked gene: ARNTL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2931 | ARNTL | Zornitza Stark Gene: arntl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2931 | ARNTL | Zornitza Stark Classified gene: ARNTL as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2931 | ARNTL | Zornitza Stark Gene: arntl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2930 | ARNTL | Zornitza Stark Tag new gene name tag was added to gene: ARNTL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2923 | ARNTL |
Sarah Milton gene: ARNTL was added gene: ARNTL was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ARNTL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARNTL were set to PMID: 40720646 Phenotypes for gene: ARNTL were set to Neurodevelopmental disorder, MONDO:0700092, BMAL1-related Review for gene: ARNTL was set to GREEN Added comment: Note has new HGNC approved name - BMAL1 BMAL1 encodes a transcription factor that plays a role in the mammalian molecular clock, binds to promoter of PER and CRY family genes to promote transcription. Other circardian genes have sleep phase disorder assoc but not neurodevelopmental phenotype. 10 affected individuals described in PMID: 40455867 with variable developmental delay/ID from average IQ to severe ID, seizures in 50%, autism, some had sleep disturbance and marfanoid habitus. Variants were LOF & missense and very rare or absent in gnomAD v4. 5 confirmed de novo, 2 confirmed inherited (one from apparently unaffected mother). Functional studies using luciferase reporter assay of downstream target PER showed reduced luminescence for most variants with presumed LOF mechanism. One variant p.(Ile201Thr) led to increased luminescence with author's postulating GOF mechanism for this variant. Drosophilia studies for 2 of the variants demonstrated altered circadian rhythm. ?needs more studies to further define mechanism. Sources: Literature |
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