Skeletal Dysplasia_Fetal
Gene: SP7

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Onset of fractures is typically post-natal in the first or second decades of life.
Created: 28 Jan 2022, 8:47 a.m. | Last Modified: 28 Jan 2022, 8:47 a.m.

Panel Version: 0.2928

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis imperfecta, type XII, MIM# 613849

Created: 28 Jan 2022, 8:47 a.m.
Last Modified: 28 Jan 2022, 8:47 a.m.
Panel version: Imported from Fetal anomalies panel version 0.2928

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

no ID as part of phenotype.
Created: 10 Dec 2019, 10:18 p.m. | Last Modified: 10 Dec 2019, 10:18 p.m.

Panel Version: 0.1211

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis imperfecta, type XII; OMIM # 613849

Created: 10 Dec 2019, 10:18 p.m.
Last Modified: 10 Dec 2019, 10:18 p.m.
Panel version: Imported from Fetal anomalies panel version Imported from Intellectual disability syndromic and non-syndromic panel version 0.1211

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Genomics England PanelApp
Victorian Clinical Genetics Services
Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

Phenotypes

Osteogenesis imperfecta, type XII, MIM# 613849

OMIM

606633

Clinvar variants

Variants in SP7

Penetrance

None

Panels with this gene