HS2ST1

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

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Amber HS2ST1 in Holoprosencephaly Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 2.27 Latest signed off version: v2.3 (27 Feb 2020) Component of the following Super Panels: Cerebral malformations	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 3: Skeletal dysplasias Level 2: Skeletal disorders Version 2.211 Latest signed off version: v2.2 (13 Feb 2020) 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 1.169 Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	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 1.542	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability dysmorphic features congenital anomalies
Green HS2ST1 in Inborn errors of metabolism Version 2.263 Latest signed off version: v2.3 (17 Feb 2020) Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability dysmorphic features congenital anomalies
Amber HS2ST1 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 3.1677 Latest signed off version: v3.2 (13 Feb 2020) Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability dysmorphic features congenital anomalies Tags watchlist