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Fetal anomalies

Gene: AHCY

Amber List (moderate evidence)

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

2 reviews

George McGillivray (Victorian Clinical Genetics Services)

I don't know

PMID 30121674:
A late-preterm infant with a prenatal diagnosis of non-immune hydrops was born with hypotonia, poor respiratory effort, chylothorax, encephalopathy, coagulopathy, progressive hepatic failure, and refractory pulmonary hypertension...
PMID 20852937:
This paper reports the clinical and metabolic findings in two sibling sisters born with fetal hydrops and eventually found to have deficient S-adenosylhomocysteine hydrolase (AHCY) activity due to compound heterozygosity for two novel mutations, c.145C>T; p.Arg49Cys and c.257A>G; p.Asp86Gly
Sources: Expert list
Created: 30 Dec 2019, 1:39 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
613752

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

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 Amber
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • S-adenosylhomocysteine hydrolase deficiency
  • Fetal hydrops
  • Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752
OMIM
180960
Clinvar variants
Variants in AHCY
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ahcy has been classified as Amber List (Moderate Evidence).

29 Nov 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AHCY was added gene: AHCY was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: AHCY was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AHCY were set to 20852937; 31957987; 30121674 Phenotypes for gene: AHCY were set to S-adenosylhomocysteine hydrolase deficiency; Fetal hydrops; Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752