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 Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.411 Component of the following Super Panels: Neuromuscular Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194 Intellectual disability dysmorphic features congenital anomalies arthrogryposis
Green HS2ST1 in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Level 2: Renal and urinary tract disorders Version 0.138 Component of the following Super Panels: Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Kidneyome_SuperPanel	review	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
Green HS2ST1 in Mendeliome Version 1.1902	review	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
Green HS2ST1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194 Intellectual disability dysmorphic features congenital anomalies
Green HS2ST1 in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.46 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	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
Green HS2ST1 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurofacioskeletal syndrome with or without renal agenesis-MIM#619194 multiple congenital anomalies arthrogryposis