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Intellectual disability syndromic and non-syndromic

Gene: AHCY

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Intellectual disability is a feature of this metabolic disorder
Created: 23 Nov 2019, 3:11 a.m. | Last Modified: 23 Nov 2019, 3:11 a.m.
Panel Version: 0.0

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752
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.

27 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AHCY were set to

6 Dec 2019, 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).

6 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AHCY were changed from to Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752

6 Dec 2019, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: AHCY was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AHCY was added gene: AHCY was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: AHCY was set to Unknown