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Mendeliome v0.10947 | ALDH2 | Zornitza Stark Marked gene: ALDH2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.10947 | ALDH2 | Zornitza Stark Gene: aldh2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.10947 | ALDH2 | Zornitza Stark Publications for gene: ALDH2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.10946 | ALDH2 | Zornitza Stark Classified gene: ALDH2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.10946 | ALDH2 | Zornitza Stark Gene: aldh2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.10945 | ALDH2 | Ain Roesley reviewed gene: ALDH2: Rating: RED; Mode of pathogenicity: None; Publications: 31368097; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.5385 | ADH5 |
Zornitza Stark gene: ADH5 was added gene: ADH5 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ADH5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADH5 were set to 33147438 Phenotypes for gene: ADH5 were set to Aplastic anaemia; myelodysplasia; short stature Review for gene: ADH5 was set to GREEN Added comment: 7 individuals reported with bi-allelic variants in this gene and a Fanconi syndrome-like phenotype. All had aplastic anaemia, 4 developed a myelodysplastic syndrome, and one developed AML. Short stature and abnormal skin pigmentation were additional features. Note, all also had the ALDH2*2 allele, which is common in East Asian populations, and may be contributory. Extensive experimental data. Sources: Literature |
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Mendeliome v0.0 | ALDH2 |
Zornitza Stark gene: ALDH2 was added gene: ALDH2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ALDH2 was set to Unknown |