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  2. Likely inborn error of metabolism
  3. HS2ST1
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Likely inborn error of metabolism

Gene: HS2ST1

Green List (high evidence)
HS2ST1 (heparan sulfate 2-O-sulfotransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000153936
EnsemblGeneIds (GRCh37): ENSG00000153936
OMIM: 604844, Gene2Phenotype
HS2ST1 is in 8 panels

2 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval
Created: 3 Mar 2022, 12:59 p.m. | Last Modified: 3 Mar 2022, 12:59 p.m.
Panel Version: 2.223
Created: 3 Mar 2022, 12:59 p.m.
Last Modified: 3 Mar 2022, 12:59 p.m.
Panel version: 2.223

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. This gene should be considered for Green gene rating status at the next review.
Sources: Literature
Created: 21 Dec 2020, 11:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability; dysmorphic features; congenital anomalies

Publications

Created: 21 Dec 2020, 11:37 a.m.

Panel version: 2.35

Details

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

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag for-review was removed from gene: HS2ST1.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to HS2ST1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

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 Inborn errors of metabolism. 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