Skeletal Dysplasia_Fetal
Gene: HSPG2EnsemblGeneIds (GRCh38): ENSG00000142798
EnsemblGeneIds (GRCh37): ENSG00000142798
OMIM: 142461, Gene2Phenotype
HSPG2 is in 11 panels
2 reviews
Dean Phelan (Victorian Clinical Genetics Services)
PMID: 38424183
- Biallelic pathogenic variants identified in five patients with Dyssegmental dysplasia, nonlethal Rolland-Desbuquois type. Haplotype analysis revealed a founder haplotype, two patients were homozygous for p.G3324R, and three patients were compound heterozygous for p.G3324R.Created: 7 Mar 2024, 12:23 a.m. | Last Modified: 7 Mar 2024, 12:23 a.m.
Panel Version: 0.217
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyssegmental dysplasia, Rolland-Desbuquois type (MONDO:0009139)
Publications
- PMID: 38424183
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Multiple congenital anomalies are a feature of both conditions.Created: 4 Dec 2019, 11:52 p.m. | Last Modified: 14 Jan 2022, 10:22 p.m.
Panel Version: 0.2255
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Schwartz-Jampel syndrome, type 1, MIM#255800; Dyssegmental dysplasia, Silverman-Handmaker type, MIM# 224410
Details
- Mode of Inheritance
- 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)
- OMIM
- 142461
- Clinvar variants
- Variants in HSPG2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Ain Roesley (Victorian Clinical Genetics Services)Publications for gene: HSPG2 were set to
Set Phenotypes
Ain Roesley (Victorian Clinical Genetics Services)Phenotypes for gene: HSPG2 were changed from to Schwartz-Jampel syndrome, type 1, MIM#255800; Dyssegmental dysplasia, Silverman-Handmaker type, MIM# 224410; Dyssegmental dysplasia, Rolland-Desbuquois type (MONDO:0009139)
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: hspg2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: HSPG2 was added gene: HSPG2 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HSPG2 was set to Unknown