Miscellaneous Metabolic Disorders
Gene: AHCY
S-adenosylhomocysteine hydrolase deficiency causes an inborn error in methionine metabolism. >3 cases reported with biallelic variants. Mouse model is homozygous-lethal.
Sources: NHS GMSCreated: 22 Jan 2021, 5:53 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752
Publications
Variants in this GENE are reported as part of current diagnostic practice
Sources: Expert listCreated: 23 Nov 2019, 4:26 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752
Publications
Tag treatable tag was added to gene: AHCY.
Phenotypes for gene: AHCY were changed from Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752 to Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752; disorder of methionine metabolism
Gene: ahcy has been classified as Green List (High Evidence).
Gene: ahcy has been classified as Green List (High Evidence).
gene: AHCY was added gene: AHCY was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: AHCY was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AHCY were set to 28779239; 26095522; 20852937; 15024124; 27626380 Phenotypes for gene: AHCY were set to Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752 Review for gene: AHCY was set to GREEN gene: AHCY was marked as current diagnostic