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Mendeliome

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 6 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

4 cases with biallelic variants from 3 unrelated families with heparan sulfate 2-O-sulfotransferase 1 deficiency in patient cells.
Sources: NHS GMS
Created: 5 Feb 2021, 2:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental delay and corpus callosum, skeletal, and renal abnormalities; disorder of glycosaminoglycan metabolism

Publications

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

- 4 affected from 3 unrelated families
- 3 unique missense and 2 PTCs
- Developmental Delay, Corpus Callosum Hypoplasia or Aplasia, and Skeletal and Renal Abnormalities
Sources: Literature
Created: 7 Dec 2020, 4:29 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194
  • Intellectual disability
  • dysmorphic features
  • congenital anomalies
OMIM
604844
Clinvar variants
Variants in HS2ST1
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

22 Feb 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HS2ST1 were changed from Intellectual disability; dysmorphic features; congenital anomalies to Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194; Intellectual disability; dysmorphic features; congenital anomalies

7 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hs2st1 has been classified as Green List (High Evidence).

7 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HS2ST1 were changed from to Intellectual disability; dysmorphic features; congenital anomalies

7 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hs2st1 has been classified as Green List (High Evidence).

7 Dec 2020, Gel status: 0

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: HS2ST1 was added gene: HS2ST1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: HS2ST1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HS2ST1 were set to 33159882 Penetrance for gene: HS2ST1 were set to unknown Review for gene: HS2ST1 was set to GREEN