Amelogenesis imperfectaGene: SLC10A7
PMID: 30082715 reports five different SLC10A7 variants in four patients from four unrelated families and two patients from two distantly related families. The study states that the variants segregated according to a recessive mode of inheritance, however the genotype was not shown on the pedigree diagram. Further evidence was provided in a knockout mouse model that displayed abnormal development of skeletal structures and teeth anomalies. This gene is not related to a disease in OMIM or Gene2Phenotype.
11 Oct 2018, 12:52 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
skeletal dysplasia and amelogenesis imperfecta
gene: SLC10A7 was added gene: SLC10A7 was added to Amelogenesis Imperfecta. Sources: Literature Mode of inheritance for gene: SLC10A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC10A7 were set to 30082715 Phenotypes for gene: SLC10A7 were set to skeletal dysplasia and amelogenesis imperfecta