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BabyScreen+ newborn screening

Gene: SP7

Amber List (moderate evidence)
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)

I don't know

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.

Treatment: bisphosphanates are generally used in OI; however, cannot find a specific report of use in this sub-type.

Non-genetic confirmatory testing: skeletal survey.
Created: 26 Mar 2023, 11:41 p.m. | Last Modified: 26 Mar 2023, 11:41 p.m.
Panel Version: 0.2097

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis imperfecta, type XII, MIM# 613849

Publications

Created: 26 Mar 2023, 11:41 p.m.
Last Modified: 26 Mar 2023, 11:41 p.m.
Panel version: 0.2097

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • BabySeq Category C gene
Phenotypes
  • Osteogenesis imperfecta, type XII, MIM# 613849
Tags
skeletal
OMIM
606633
Clinvar variants
Variants in SP7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Mar 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sp7 has been classified as Amber List (Moderate Evidence).

26 Mar 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SP7 were changed from Osteogenesis imperfecta, type XII to Osteogenesis imperfecta, type XII, MIM# 613849

26 Mar 2023, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SP7 were set to

26 Mar 2023, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SP7 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal

26 Mar 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sp7 has been classified as Amber List (Moderate Evidence).

26 Mar 2023, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag skeletal tag was added to gene: SP7.

18 Sep 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SP7 was added gene: SP7 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SP7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SP7 were set to Osteogenesis imperfecta, type XII