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Prepair 1000+

Gene: SOST

Green List (high evidence)

SOST (sclerostin)
EnsemblGeneIds (GRCh38): ENSG00000167941
EnsemblGeneIds (GRCh37): ENSG00000167941
OMIM: 605740, Gene2Phenotype
SOST is in 9 panels

1 review

Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

Green List (high evidence)

Progressive sclerosing bone dysplasia,. AD form associated with Craniodiaphyseal dysplasia

HGNC approved symbol/name: SOST
Is the phenotype(s) severe and onset <18yo? Y
Known technical challenges? N
Gene reported in >3 independent families
Created: 4 Feb 2025, 6:02 a.m. | Last Modified: 4 Feb 2025, 6:02 a.m.
Panel Version: 1.1397

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sclerosteosis 1, OMIM#269500,MONDO:0010016

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Sclerosteosis 1, OMIM#269500,MONDO:0010016
OMIM
605740
Clinvar variants
Variants in SOST
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SOST were changed from Sclerosteosis 1, 269500 (3) to Sclerosteosis 1, OMIM#269500,MONDO:0010016

4 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SOST were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SOST was added gene: SOST was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SOST was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SOST were set to Sclerosteosis 1, 269500 (3)