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Mendeliome

Gene: SOST

Green List (high evidence)

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

1 review

Seb Lunke (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established association with recessive Sclerosteosis 1 (OMIM#269500) characterised by overgrowth and multiple facial and skeletal abnormalities Dominant association with Craniodiaphyseal dysplasia (OMIM#122860) has been described in two indipendent patients only, with different missense variants at the same residue (V21M, V21L) NOTE: Common 52-kb deletion downstream of SOST (van Buchem disease, MIM#239100)
Created: 24 Feb 2022, 3:33 a.m. | Last Modified: 24 Feb 2022, 3:33 a.m.
Panel Version: 0.11067

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Sclerosteosis 1, OMIM#269500; Craniodiaphyseal dysplasia, OMIM#122860

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Sclerosteosis 1, OMIM#269500
  • Craniodiaphyseal dysplasia, OMIM#122860
Tags
SV/CNV
OMIM
605740
Clinvar variants
Variants in SOST
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Feb 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: SOST.

24 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

24 Feb 2022, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: SOST were changed from to Sclerosteosis 1, OMIM#269500; Craniodiaphyseal dysplasia, OMIM#122860

24 Feb 2022, Gel status: 3

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: SOST were set to

24 Feb 2022, Gel status: 3

Set mode of inheritance

Seb Lunke (Victorian Clinical Genetics Services)

Mode of inheritance for gene: SOST was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SOST was added gene: SOST was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SOST was set to Unknown