Amelogenesis imperfectaGene: SP6
Comment on list classification: Changing rating from red to amber. 1 case plus rodent models reported.
Created: 12 Jun 2020, 4:48 p.m. | Last Modified: 12 Jun 2020, 4:48 p.m.
Panel Version: 2.7
PMID: 32167558 - Smith et al 2020 - report a 2 bp variant c.817_818GC>AA in SP6 in a Caucasian family with autosomal dominant hypoplastic AI which results in a missense change. Report that mice and rat knockouts also show a dental phenotype (PMID: 18156176, 18297738, 22676574 )
Created: 12 Jun 2020, 4:47 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SP6 were set to 32167558
Gene: sp6 has been classified as Amber List (Moderate Evidence).
gene: SP6 was added gene: SP6 was added to Amelogenesis imperfecta. Sources: Literature Mode of inheritance for gene: SP6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SP6 were set to 32167558 Phenotypes for gene: SP6 were set to Amelogenesis Imperfecta Review for gene: SP6 was set to AMBER