IBMDx study
Gene: ADH5
ADH5 (alcohol dehydrogenase 5 (class III), chi polypeptide)
EnsemblGeneIds (GRCh38): ENSG00000197894
EnsemblGeneIds (GRCh37): ENSG00000197894
OMIM: 103710, Gene2Phenotype
ADH5 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000197894
EnsemblGeneIds (GRCh37): ENSG00000197894
OMIM: 103710, Gene2Phenotype
ADH5 is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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: LiteratureCreated: 18 Nov 2020, 3:34 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
AMED syndrome, digenic, MIM# 619151; Aplastic anaemia; myelodysplasia; short stature
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- IBMDx Study
- Expert Review Green
- Literature
- Phenotypes
-
- AMED syndrome, digenic, MIM# 619151
- short stature
- Aplastic anaemia
- myelodysplasia
- OMIM
- 103710
- Clinvar variants
- Variants in ADH5
- Penetrance
- None
- Panels with this gene
History Filter Activity
10 Dec 2021, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ADH5 was added gene: ADH5 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: ADH5 was set to Unknown Phenotypes for gene: ADH5 were set to AMED syndrome, digenic, MIM# 619151; short stature; Aplastic anaemia; myelodysplasia