AHCY

adenosylhomocysteinase
OMIM: 180960, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green AHCY in Fetal hydrops Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.64	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes non-immune hydrops Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 S-adenosylhomocysteine hydrolase deficiency AHCY deficiency
Green AHCY in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 Disorders of the metabolism of sulphur amino acids Tags treatable
Green AHCY in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 Disorders of the metabolism of sulphur amino acids Tags treatable
Green AHCY in Fetal anomalies Version 3.169 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Fetal hydrops S-adenosylhomocysteine hydrolase deficiency Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752
Green AHCY in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.557 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 Tags treatable