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Skeletal dysplasia

Gene: SP7

Green List (high evidence)

SP7 (Sp7 transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000170374
EnsemblGeneIds (GRCh37): ENSG00000170374
OMIM: 606633, Gene2Phenotype
SP7 is in 3 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

OI and decreasing bone density gp of SD, only 2 cases?; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis imperfecta, type XII 613849

Publications

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Changing rating from red to green. Including genes that are green on the Osteogenesis imperfecta panel (panel ID:196, version 2.0) as green on the Skeletal dysplasia panel on the advice of Prof Lyn Chitty.
Created: 11 Dec 2019, 2:11 p.m. | Last Modified: 11 Dec 2019, 2:11 p.m.
Panel Version: 1.262
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: SP7; Initial rating suggestion: amber
Created: 6 Mar 2019, 11:37 a.m.

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Associated with phenotype in OMIM. Only one variant reported
Created: 27 Jul 2016, 10:08 a.m.
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve Abbs
Created: 27 Jul 2016, 10:07 a.m.
Comment on list classification: Only one variant reported for this phenotype
Created: 11 Jul 2016, 9:54 a.m.
Comment on list classification: Tier 1 gene for skeletal dysplasia (Ana Beleza). Only one variant reported
Created: 8 Jul 2016, 1:08 p.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis imperfecta, type XII 613849

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert
Phenotypes
  • Osteogenesis imperfecta, type XII 613849
OMIM
606633
Clinvar variants
Variants in SP7
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: sp7 has been classified as Green List (High Evidence).

6 May 2019, Gel status: 1

Set Phenotypes, Set publications

Eleanor Williams (Genomics England Curator)

Added phenotypes Osteogenesis imperfecta, type XII 613849 for gene: SP7 Publications for gene SP7 were changed from 20579626 to 2057926; 29382611

6 Mar 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to SP7.

9 Aug 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

27 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

11 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

8 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SP7 were set to Osteogenesis imperfecta, type XII 613849

8 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 Jul 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for SP7 were set to 20579626

8 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

18 May 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

SP7 was added to Unexplained skeletal dysplasiapanel. Source: Expert SP7 was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen SP7 was added to Unexplained skeletal dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services SP7 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory SP7 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Green Model of inheritance for gene SP7 was set to BIALLELIC, autosomal or pseudoautosomal

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

SP7 was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SP7 was created by sleigh