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Amelogenesis imperfecta

Gene: SP6

Green List (high evidence)
SP6 (Sp6 transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000189120
EnsemblGeneIds (GRCh37): ENSG00000189120
OMIM: 608613, Gene2Phenotype
SP6 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two families, a mouse and a rat model support gene-disease association.
Created: 13 Aug 2021, 6:08 a.m. | Last Modified: 13 Aug 2021, 6:08 a.m.
Panel Version: 0.65

Phenotypes
Amelogenesis imperfecta, type IK, MIM# 620104

Publications

Created: 13 Aug 2021, 6:08 a.m.
Last Modified: 13 Aug 2021, 6:08 a.m.
Panel version: 1.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Amelogenesis imperfecta, type IK, MIM# 620104
OMIM
608613
Clinvar variants
Variants in SP6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Oct 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SP6 were changed from Amelogenesis Imperfecta to Amelogenesis imperfecta, type IK, MIM# 620104

13 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sp6 has been classified as Green List (High Evidence).

13 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sp6 has been classified as Green List (High Evidence).

7 May 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SP6 was added gene: SP6 was added to Amelogenesis imperfecta. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SP6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SP6 were set to 18297738; 32167558; 18156176; 22676574 Phenotypes for gene: SP6 were set to Amelogenesis Imperfecta