AHCY

adenosylhomocysteinase
OMIM: 180960, ClinGen, DECIPHER

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 0.324	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes 613752
Green AHCY in Mendeliome Version 1.2302	2 reviews	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 1.63	1 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 1.20 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	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 1.48 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	2 reviews	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 1.313	2 reviews	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 1.133 Component of the following Super Panels: Metabolic Disorders Superpanel	1 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 1.116	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BeginNGS Phenotypes Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM# 613752 Tags treatable metabolic