SOST:Ensemblv90

sclerostin
OMIM: 605740, ClinGen, DECIPHER

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green SOST in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.153	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SOST in Mendeliome Version 1.3802	1 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 0.98	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes sclerosteosis 1 MONDO:0010016
Red SOST in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.508	1 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 0.365	1 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 0.111	0 reviews	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 0.80 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	0 reviews	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 1.482	2 reviews	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 2.15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Sclerosteosis 1, OMIM#269500,MONDO:0010016
Green SOST in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Green SOST in Osteopetrosis Level 2: Skeletal disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes sclerosteosis 1 MONDO:0010016
Green SOST in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Expert Review Green Expert Review Green 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 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Sclerosteosis 1, 269500 (3)
Green SOST in Hand and foot malformations Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Van Buchem disease 239100 Sclerosteosis 1 269500 Craniodiaphyseal dysplasia, autosomal dominant 122860
Green SOST in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Sclerosteosis 1, OMIM#269500,MONDO:0010016