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Aminoacidopathy

Gene: AHCY

Green List (high evidence)
AHCY (adenosylhomocysteinase)
EnsemblGeneIds (GRCh38): ENSG00000101444
EnsemblGeneIds (GRCh37): ENSG00000101444
OMIM: 180960, Gene2Phenotype
AHCY is in 8 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Individuals present with psychomotor delay along with biochemical abnormalities (elevated plasma SAH, SAM, methionione and creatine kinase with decreased SAM/SAH ratio).
At least 10 probands (majority having missense variants but nonsense variants have been reported as well) have been reported with a biochemical abnormality. LoF is the mechanism of disease.

Classified Moderate on 12/12/2022 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004077
Sources: ClinGen
Created: 22 May 2024, 2:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MONDO:0013404

Publications

Created: 22 May 2024, 2:17 a.m.

Panel version: 1.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MONDO:0013404
OMIM
180960
Clinvar variants
Variants in AHCY
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ahcy has been classified as Green List (High Evidence).

24 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AHCY were set to 13641268, 15024124, 16736098, 20852937, 22959829, 30121674, 26527160, 26095522, 27848944, 31957987, 35463910

24 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ahcy has been classified as Green List (High Evidence).

22 May 2024, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sangavi Sivagnanasundram (Melbourne Health)

gene: AHCY was added gene: AHCY was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: AHCY was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AHCY were set to 13641268, 15024124, 16736098, 20852937, 22959829, 30121674, 26527160, 26095522, 27848944, 31957987, 35463910 Phenotypes for gene: AHCY were set to hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MONDO:0013404 Review for gene: AHCY was set to GREEN