Amelogenesis imperfecta
Gene: SP6
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
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
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: LiteratureCreated: 12 Jun 2020, 4:47 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Amelogenesis Imperfecta
Publications
Tag Q3_21_rating was removed from gene: SP6.
Source Expert Review Green was added to SP6. Source NHS GMS was added to SP6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: sp6 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: SP6 were changed from Amelogenesis Imperfecta to Amelogenesis Imperfecta, MONDO:0019507
Publications for gene: SP6 were set to 32167558; 18156176; 18297738; 22676574
Tag Q3_21_rating tag was added to gene: SP6.
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