HS2ST1

heparan sulfate 2-O-sulfotransferase 1
OMIM: 604844, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Amber HS2ST1 in Holoprosencephaly - NOT chromosomal Level 2: Neurology Version 5.9 Latest signed off version: v5.1 (30 Oct 2024) Component of the following Super Panels: Cerebral malformation	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability dysmorphic features congenital anomalies Tags watchlist
Green HS2ST1 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.34 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability dysmorphic features congenital anomalies Neurofacioskeletal syndrome with or without renal agenesis,OMIM:619194
Amber HS2ST1 in CAKUT Level 3: Structural renal and urinary tract disease Level 2: Renal and urinary tract disorders Version 1.181	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability dysmorphic features congenital anomalies Tags watchlist
Green HS2ST1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability dysmorphic features congenital anomalies
Green HS2ST1 in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability dysmorphic features congenital anomalies
Green HS2ST1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes arthrogryposis Neurofacioskeletal syndrome with or without renal agenesis, OMIM:619194 multiple congenital anomalies
Green HS2ST1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HS2ST1-related Developmental Disorder
Amber HS2ST1 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability dysmorphic features congenital anomalies Tags watchlist