SOST

sclerostin
OMIM: 605740, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green SOST in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.140	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SOST in Mendeliome Version 1.1891	review	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
Green SOST in Osteopetrosis Level 2: Skeletal disorders Version 0.34	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red SOST in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Craniodiaphyseal dysplasia, autosomal dominant, OMIM #122860 Sclerosteosis 1 , OMIM #269500 Van Buchem disease, OMIM #239100
Green SOST in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert NHS GMS Phenotypes Craniodiaphyseal dysplasia, autosomal dominant 122860 Van Buchem disease 239100 Sclerosteosis 1 269500
Green SOST in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Sclerosteosis 1, 269500 (3)
Green SOST in Hand and foot malformations Level 2: Dysmorphic and congenital abnormality syndromes Version 0.74 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Van Buchem disease 239100 Sclerosteosis 1 269500 Craniodiaphyseal dysplasia, autosomal dominant 122860
Green SOST in Fetal anomalies Version 1.255	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes Sclerosteosis 1, OMIM#269500 Craniodiaphyseal dysplasia, OMIM#122860 Tags SV/CNV
Green SOST in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Sclerosteosis 1, 269500 (3)