Skeletal dysplasia
Gene: SP7

SP7 (Sp7 transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000170374
EnsemblGeneIds (GRCh37): ENSG00000170374
OMIM: 606633, Gene2Phenotype
SP7 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

OI type XII is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, progressive hearing loss, no dentinogenesis imperfecta, and white sclerae.

Multiple families reported with bi-allelic disease. Note one recent report of mono-allelic disease.
Created: 6 Apr 2022, 8:47 p.m. | Last Modified: 6 Apr 2022, 8:47 p.m.

Panel Version: 0.12641

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis imperfecta type 12, MONDO:0013460; Osteogenesis imperfecta, type XII, OMIM:613849

Publications

Created: 6 Apr 2022, 8:47 p.m.
Last Modified: 6 Apr 2022, 8:47 p.m.
Panel version: Imported from Mendeliome panel version 0.12641

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
Expert
Radboud University Medical Center, Nijmegen
Expert Review Green
NHS GMS
Emory Genetics Laboratory
Victorian Clinical Genetics Services

Phenotypes

Osteogenesis imperfecta, type XII 613849

OMIM

606633

Clinvar variants

Variants in SP7

Penetrance

None

Publications

Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SP7 was added gene: SP7 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,Expert,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: SP7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SP7 were set to 29382611; 2057926 Phenotypes for gene: SP7 were set to Osteogenesis imperfecta, type XII 613849

Skeletal dysplasia Gene: SP7