Amelogenesis imperfecta

Gene: SP6

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.

Created: 1 Feb 2023, 5:04 p.m. | Last Modified: 1 Feb 2023, 5:04 p.m.

Panel Version: 2.22

Green List (high evidence)

Additional case reported. Consider green rating given mouse and rat model.

Created: 13 Aug 2021, 6:08 a.m. | Last Modified: 13 Aug 2021, 6:08 a.m.

Panel Version: 2.8

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amelogenesis imperfecta

Publications

• 33652941

Green List (high evidence)

Comment on list classification: Leaving rating as amber, but with recommendation for green rating following GMS review. 2 unrelated cases, plus animal model.

Created: 19 Aug 2021, 12:38 p.m. | Last Modified: 19 Aug 2021, 12:38 p.m.

Panel Version: 2.11

Additional case from Korea reported in PMID: 33652941 (Kim et al 2021) has the same nucleotide positions affected as in previous case (c.817_818delinsAT, p.(Ala273Met)) in the SP6 gene. The variant was de novo and the child showed unusual root development, taurodontism, and severe hypoplastic AI.

Created: 19 Aug 2021, 12:32 p.m. | Last Modified: 19 Aug 2021, 12:32 p.m.

Panel Version: 2.8

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 )
Sources: Literature

Created: 12 Jun 2020, 4:47 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Amelogenesis Imperfecta

Publications

• 32167558