Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic

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)

4 individuals from 3 unrelated families reported.
Sources: Expert Review
Created: 2 Sep 2021, 3:59 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

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
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194
OMIM
604844
Clinvar variants
Variants in HS2ST1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Sep 2021, 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).

2 Sep 2021, 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).

2 Sep 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HS2ST1 was added gene: HS2ST1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Expert Review 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 Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194 Review for gene: HS2ST1 was set to GREEN