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Fetal anomalies

Gene: SOST

Green List (high evidence)
SOST (sclerostin)
EnsemblGeneIds (GRCh38): ENSG00000167941
EnsemblGeneIds (GRCh37): ENSG00000167941
OMIM: 605740, Gene2Phenotype
SOST is in 4 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Comment on mode of inheritance: SOST was originally in the PAGE Additional list with 'Biallelic' inheritance and a confirmed rating. Changed the inheritance to both monoallelic and biallelic following clinical review.
Created: 24 Mar 2019, 8:05 p.m.
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Change mode of inheritance to 'both monoallelic and biallelic' to include AD Craniodiaphyseal dysplasia. Action taken: Changed Mode of inheritance from 'biallelic' to 'both monoallelic and biallelic'.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed.
Created: 11 Dec 2018, 9:05 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Craniodiaphyseal dysplasia, autosomal dominant, 122860; Sclerosteosis 1, 269500

Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.134

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • PAGE Additional Gene List
  • Expert Review Green
Phenotypes
  • SOST-Related Sclerosing Bone Dysplasias 122860
  • Sclerosteosis 1, 269500
  • Craniodiaphyseal dysplasia, autosomal dominant, 122860
OMIM
605740
Clinvar variants
Variants in SOST
Penetrance
None
Panels with this gene

History Filter Activity

24 Mar 2019, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: SOST were changed from 269500; SOST-Related Sclerosing Bone Dysplasias 122860; Sclerosteosis 1, 269500; Craniodiaphyseal dysplasia, autosomal dominant, 122860 to SOST-Related Sclerosing Bone Dysplasias 122860; Sclerosteosis 1, 269500; Craniodiaphyseal dysplasia, autosomal dominant, 122860

24 Mar 2019, Gel status: 4

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

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

24 Mar 2019, Gel status: 4

Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene SOST was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Sclerosteosis 1, 269500; Craniodiaphyseal dysplasia, autosomal dominant, 122860 for gene: SOST

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: SOST was added gene: SOST was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: SOST was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SOST were set to 269500; SOST-Related Sclerosing Bone Dysplasias 122860