Amelogenesis imperfecta

Gene: SP6

Amber List (moderate evidence)

SP6 (Sp6 transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000189120
EnsemblGeneIds (GRCh37): ENSG00000189120
OMIM: 608613, Gene2Phenotype
SP6 is in 1 panel

2 reviews

Zornitza Stark (Australian Genomics)

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

Eleanor Williams (Genomics England Curator)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Amelogenesis Imperfecta, MONDO:0019507
Tags
Q3_21_rating
OMIM
608613
Clinvar variants
Variants in SP6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Aug 2021, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: sp6 has been classified as Amber List (Moderate Evidence).

19 Aug 2021, Gel status: 2

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: SP6 were changed from Amelogenesis Imperfecta to Amelogenesis Imperfecta, MONDO:0019507

19 Aug 2021, Gel status: 2

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: SP6 were set to 32167558; 18156176; 18297738; 22676574

19 Aug 2021, Gel status: 2

Added Tag

Eleanor Williams (Genomics England Curator)

Tag Q3_21_rating tag was added to gene: SP6.

12 Jun 2020, Gel status: 2

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: SP6 were set to 32167558

12 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: sp6 has been classified as Amber List (Moderate Evidence).

12 Jun 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

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