Miscellaneous Metabolic Disorders
Gene: HS2ST1EnsemblGeneIds (GRCh38): ENSG00000153936
EnsemblGeneIds (GRCh37): ENSG00000153936
OMIM: 604844, Gene2Phenotype
HS2ST1 is in 6 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194
Bryony Thompson (Royal Melbourne Hospital)
4 cases with biallelic variants from 3 unrelated families with heparan sulfate 2-O-sulfotransferase 1 deficiency in patient cells.
Sources: NHS GMSCreated: 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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194
- Developmental delay and corpus callosum, skeletal, and renal abnormalities
- disorder of glycosaminoglycan metabolism
- OMIM
- 604844
- Clinvar variants
- Variants in HS2ST1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: HS2ST1 were changed from Developmental delay and corpus callosum, skeletal, and renal abnormalities; disorder of glycosaminoglycan metabolism to Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194; Developmental delay and corpus callosum, skeletal, and renal abnormalities; disorder of glycosaminoglycan metabolism
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: hs2st1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: hs2st1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: HS2ST1 was added gene: HS2ST1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS 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 Developmental delay and corpus callosum, skeletal, and renal abnormalities; disorder of glycosaminoglycan metabolism Review for gene: HS2ST1 was set to GREEN