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| Bone Marrow Failure v1.91 | ADH5 | Santosh Varughese reviewed gene: ADH5: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 33147438; Phenotypes: AMED syndrome, digenic, Aplastic anaemia, myelodysplasia, short stature; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.172 | ADH5 | Zornitza Stark Phenotypes for gene: ADH5 were changed from Aplastic anaemia; myelodysplasia; short stature to AMED syndrome, digenic, MIM# 619151; Aplastic anaemia; myelodysplasia; short stature | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.171 | ADH5 | Zornitza Stark edited their review of gene: ADH5: Changed phenotypes: AMED syndrome, digenic, MIM# 619151, Aplastic anaemia, myelodysplasia, short stature | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.171 | ADH5 | Zornitza Stark Marked gene: ADH5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.171 | ADH5 | Zornitza Stark Gene: adh5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.171 | ADH5 | Zornitza Stark Classified gene: ADH5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.171 | ADH5 | Zornitza Stark Gene: adh5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.170 | ADH5 |
Zornitza Stark gene: ADH5 was added gene: ADH5 was added to Bone Marrow Failure. 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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