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Intellectual disability

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

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). 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. Therefore, there is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating.
Created: 18 Dec 2020, 2:03 p.m. | Last Modified: 18 Dec 2020, 2:03 p.m.
Panel Version: 3.654

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Four affected individuals from 3 unrelated families. 3 unique missense and 2 PTCs. Clinical features included developmental delay, corpus callosum hypoplasia or aplasia, and skeletal and renal abnormalities as well as joint contractures/arthrogryposis.
Sources: Literature
Created: 9 Dec 2020, 8:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Intellectual disability; dysmorphic features; congenital anomalies



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Amber
  • Intellectual disability
  • dysmorphic features
  • congenital anomalies
Clinvar variants
Variants in HS2ST1
Panels with this gene

History Filter Activity

18 Dec 2020, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: HS2ST1.

18 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).

9 Dec 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: HS2ST1 was added gene: HS2ST1 was added to Intellectual disability. Sources: Literature 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 GREEN