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| Mendeliome v1.4031 | MAU2 | Zornitza Stark Marked gene: MAU2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4031 | MAU2 | Zornitza Stark Gene: mau2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4031 | MAU2 | Lucy Spencer Classified gene: MAU2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4031 | MAU2 | Lucy Spencer Gene: mau2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4030 | MAU2 |
Lucy Spencer gene: MAU2 was added gene: MAU2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: MAU2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAU2 were set to 41332805; 37962004; 32433956 Phenotypes for gene: MAU2 were set to Cornelia de Lange syndrome MONDO:0016033, MAU2-related Review for gene: MAU2 was set to GREEN Added comment: PMID 41332805 report a total of 18 individuals from 15 unrelated families with heterozygous MAU2 variants causing Cornelia de Lange syndrome (1 of these patients was previously reported in PMID: 32433956). The main phenotypes in this cohort were short stature, microcephaly and ID, around half also had a mix of the characteristic CDLS facial features like synophrys, long smooth philtrum, thick eyebrows, thin upper lip vermilion and anteverted nares. Variants include loss‑of‑function (nonsense, frameshift, splice‑affecting) that cause haploinsufficiency, and missense/in‑frame deletions some of which were shown to disrupt NIPBL‑MAU2 interaction. Most were de novo but several were transmitted from affected parents, and for 5 cases inheritance was unknown. All but one of the missense/inframe deletion variants is absent from gnomad v4, p.Cys50Ser is present with 6 heterozygotes and may not be pathogenic. PMID: 37962004 has one additional patient with atypical Cornelia de Lange syndrome who has a de novo missense variant, absent from gnomad. Sources: Literature |
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