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Mendeliome

Gene: SP6

Green List (high evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Additional family reported.
Created: 13 Aug 2021, 6:10 a.m. | Last Modified: 13 Aug 2021, 6:10 a.m.
Panel Version: 0.8803

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amelogenesis imperfecta, type IK, MIM# 620104

Publications

Eleanor Williams (Genomics England)

I don't know

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: 30 Jun 2020, 3:13 p.m.

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

Phenotypes
hypoplastic amelogenesis imperfecta

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
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 hypoplastic amelogenesis imperfecta to Amelogenesis imperfecta, type IK, MIM# 620104

13 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Aug 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SP6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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).

1 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

30 Jun 2020, Gel status: 0

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

Eleanor Williams (Genomics England)

gene: SP6 was added gene: SP6 was added to Mendeliome. 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; 18156176; 18297738; 22676574 Phenotypes for gene: SP6 were set to hypoplastic amelogenesis imperfecta Review for gene: SP6 was set to AMBER