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| Mendeliome v1.3992 | UNC45A | Zornitza Stark Tag 5'UTR tag was added to gene: UNC45A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3992 | UNC45A | Zornitza Stark Publications for gene: UNC45A were set to 29429573; 35575086; 36699472; 37328071, 39887522; 40125554; 40129845; 32013205 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3991 | UNC45A | Zornitza Stark Publications for gene: UNC45A were set to 29429573 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3990 | UNC45A | Zornitza Stark edited their review of gene: UNC45A: Added comment: PMIDs 29429573, 35575086, 36699472, 37328071, 39887522, 40125554, 40129845, 32013205 add 33 unrelated families to the previously reviewed three families, bringing the total to 37 unrelated families. Eleven families present with osteo‑oto‑hepato‑enteric (O2HE) syndrome (neonatal cholestasis, intractable diarrhea, bone fragility, sensorineural hearing loss) and carry loss‑of‑function or protein‑unstable missense variants. Functional validation (Western blot, zebrafish morpholino knock‑down, rescue experiments, CRISPR‑KO in Caco‑2/U2OS cells) demonstrates pathogenicity. Twenty‑five families have Aagenaes syndrome (lymphedema‑cholestasis syndrome) caused by a recurrent 5′‑UTR regulatory variant (c.-98G>T) plus loss‑of‑function exonic alleles, with reduced UNC45A expression confirmed in patient blood and CRISPR‑edited cells.; Changed publications: 29429573, 35575086, 36699472, 37328071, 39887522, 40125554, 40129845, 32013205 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7914 | UNC45A | Zornitza Stark Phenotypes for gene: UNC45A were changed from Cholestasis; Diarrhoea; Bone fragility; Impaired hearing to Osteootohepatoenteric syndrome, MIM# 619377; Cholestasis; Diarrhoea; Bone fragility; Impaired hearing | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7913 | UNC45A | Zornitza Stark edited their review of gene: UNC45A: Changed phenotypes: Osteootohepatoenteric syndrome, MIM# 619377, Cholestasis, Diarrhoea, Bone fragility, Impaired hearing | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3740 | UNC45A | Zornitza Stark Marked gene: UNC45A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3740 | UNC45A | Zornitza Stark Gene: unc45a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3740 | UNC45A | Zornitza Stark Phenotypes for gene: UNC45A were changed from to Cholestasis; Diarrhoea; Bone fragility; Impaired hearing | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3739 | UNC45A | Zornitza Stark Publications for gene: UNC45A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3738 | UNC45A | Zornitza Stark Mode of inheritance for gene: UNC45A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3737 | UNC45A | Zornitza Stark reviewed gene: UNC45A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29429573; Phenotypes: Cholestasis, Diarrhoea, Bone fragility, Impaired hearing; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | UNC45A |
Zornitza Stark gene: UNC45A was added gene: UNC45A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: UNC45A was set to Unknown |
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