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 0.427 Component of the following Super Panels: Neuromuscular Superpanel	1 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 0.159 Component of the following Super Panels: Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Kidneyome_SuperPanel	3 reviews	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 1.3512	3 reviews	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 1.410	3 reviews	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 1.57 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	2 reviews	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 1.465	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurofacioskeletal syndrome with or without renal agenesis-MIM#619194 multiple congenital anomalies arthrogryposis