AHCY

adenosylhomocysteinase
OMIM: 180960, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Amber AHCY in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.313	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes 613752
Green AHCY in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Victorian Clinical Genetics Services Phenotypes Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752 Tags treatable
Green AHCY 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 Genetic Health Queensland Phenotypes Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752 Tags treatable
Green AHCY in Rhabdomyolysis and Metabolic Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.6 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Expert list Expert list Victorian Clinical Genetics Services Phenotypes Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752
Green AHCY 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 Expert Review Green Expert list Victorian Clinical Genetics Services Expert Review Green Phenotypes Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752 disorder of methionine metabolism Tags treatable
Amber AHCY in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Expert list Genetic Health Queensland Phenotypes S-adenosylhomocysteine hydrolase deficiency Fetal hydrops Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752
Green AHCY in Aminoacidopathy Level 2: Metabolic disorders Version 1.128 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MONDO:0013404
Green AHCY in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BeginNGS Phenotypes Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM# 613752 Tags treatable metabolic