Rhabdomyolysis and Metabolic Myopathy
Gene: AHCY
At least 4 unrelated cases reported with paediatric onset myopathy as a prominent feature of the condition.
Sources: Expert listCreated: 17 Jun 2020, 2:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752
Publications
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
Publications for gene: AHCY were set to 28779239
Gene: ahcy has been classified as Green List (High Evidence).
Gene: ahcy has been classified as Red List (Low Evidence).
gene: AHCY was added gene: AHCY was added to Rhabdomyolysis RMH. Sources: Expert list Mode of inheritance for gene: AHCY was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AHCY were set to 28779239 Phenotypes for gene: AHCY were set to Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752 Review for gene: AHCY was set to RED