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Skeletal dysplasia

Gene: HS2ST1

Amber List (moderate evidence)

HS2ST1 (heparan sulfate 2-O-sulfotransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000153936
EnsemblGeneIds (GRCh37): ENSG00000153936
OMIM: 604844, Gene2Phenotype
HS2ST1 is in 6 panels

2 reviews

Michael Oldridge (NHS)

Green List (high evidence)

pathogenic variants identified in 3 unrelated families. relatively mild skeletal phenotype, however, phenotype with contractures and brachydactyly seen in TOP before other diagnostic features become apparent would suggest adding as green rating?
Created: 30 Jan 2021, 12:53 p.m. | Last Modified: 30 Jan 2021, 12:53 p.m.
Panel Version: 2.80

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ID; facial dysmorphism; skeletal abnormalities

Publications

Ivone Leong (Genomics England Curator)

I don't know

This gene is not associated with a relevant phenotype in OMIM or Gene2Phenotype. Only 2 of 3 unrelated families with affected individuals described in PMID: 33159882 were reported to have ID. The affected individuals in the third family could not be assessed for ID. Other features affected individuals had were muscular hypotonia, hypoplasia/agenesis of corpus callosum, skeletal abnormalities, uni/bilateral renal agenesis (2/3) and craniofacial dysmorphism. After consulting the Genomics England Clinical Team, it was decided that this gene should be added to this panel with an Amber rating. The skeletal phenotype is relatively mild and the GMS specialist group should review whether this gene is appropriate for this panel.
Sources: Literature
Created: 21 Dec 2020, 1:04 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability; dysmorphic features; congenital anomalies

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual disability
  • dysmorphic features
  • congenital anomalies
Tags
for-review
OMIM
604844
Clinvar variants
Variants in HS2ST1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: hs2st1 has been classified as Amber List (Moderate Evidence).

21 Dec 2020, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: HS2ST1 was added gene: HS2ST1 was added to Skeletal dysplasia. Sources: Literature for-review tags were added to gene: HS2ST1. Mode of inheritance for gene: HS2ST1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HS2ST1 were set to 33159882 Phenotypes for gene: HS2ST1 were set to Intellectual disability; dysmorphic features; congenital anomalies Review for gene: HS2ST1 was set to AMBER