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  3. AHCY
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Miscellaneous Metabolic Disorders

Gene: AHCY

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

S-adenosylhomocysteine hydrolase deficiency causes an inborn error in methionine metabolism. >3 cases reported with biallelic variants. Mouse model is homozygous-lethal.
Sources: NHS GMS
Created: 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

Created: 22 Jan 2021, 5:53 a.m.

Panel version: 0.22

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sources: Expert list
Created: 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

Created: 23 Nov 2019, 4:26 a.m.

Panel version: Imported from Mendeliome panel version Imported from Intellectual Disability syndromic and nonsyndromic_VCGS panel version 0.18

Details

Mode of Inheritance
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
OMIM
180960
Clinvar variants
Variants in AHCY
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: AHCY.

22 Jan 2021, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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

22 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

22 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

22 Jan 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

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