HSPG2

heparan sulfate proteoglycan 2
OMIM: 142461, ClinGen, DECIPHER

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green HSPG2 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.225	2 reviews	Unknown	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Phenotypes Schwartz-Jampel syndrome, type 1, MIM#255800 Dyssegmental dysplasia, Silverman-Handmaker type, MIM# 224410 Dyssegmental dysplasia, Rolland-Desbuquois type (MONDO:0009139)
Green HSPG2 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.416	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Schwartz-Jampel syndrome, type 1, MIM# 255800 MONDO:0009717
Green HSPG2 in Blepharophimosis Level 2: Ophthalmological disorders Version 1.1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Schwartz-Jampel syndrome, type 1, MIM# 255800 MONDO:0009717
Green HSPG2 in Mendeliome Version 1.2302	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Schwartz-Jampel syndrome, type 1, MIM# 255800 MONDO:0009717 Dyssegmental dysplasia, Silverman-Handmaker type, MIM# 224410 MONDO:0009140
Green HSPG2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Schwartz-Jampel syndrome, type 1, MIM#255800
Green HSPG2 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.302	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Expert Review Green NHS GMS Expert list Emory Genetics Laboratory Victorian Clinical Genetics Services Phenotypes Dyssegmental dysplasia, Rolland-Desbuquois type (MONDO:0009139) Dyssegmental dysplasia, Silverman-Handmaker type 224410 Schwartz-Jampel syndrome, type 1 255800
Green HSPG2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Schwartz-Jampel syndrome, type 1, 255800 (3)
Green HSPG2 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Schwartz-Jampel syndrome
Green HSPG2 in Fetal anomalies Version 1.313	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Dyssegmental dysplasia, Rolland-Desbuquois type (MONDO:0009139) Schwartz-Jampel syndrome, MONDO:0009717 Silverman-Handmaker type dyssegmental dysplasia, MONDO:0009140 Schwartz-Jampel syndrome, type 1, OMIM:255800 Dyssegmental dysplasia, Silverman-Handmaker type, OMIM:224410
Green HSPG2 in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Schwartz-Jampel syndrome, type 1, MIM# 255800 Dyssegmental dysplasia, Silverman-Handmaker type, MIM# 224410
Red HSPG2 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Schwartz-Jampel syndrome, type 1, MIM# 255800 MONDO:0009717 Dyssegmental dysplasia, Silverman-Handmaker type, MIM# 224410 MONDO:0009140