Hydrops fetalis
Gene: AHCY
AHCY (adenosylhomocysteinase)
EnsemblGeneIds (GRCh38): ENSG00000101444
EnsemblGeneIds (GRCh37): ENSG00000101444
OMIM: 180960, Gene2Phenotype
AHCY is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000101444
EnsemblGeneIds (GRCh37): ENSG00000101444
OMIM: 180960, Gene2Phenotype
AHCY is in 8 panels
1 review
George McGillivray (Victorian Clinical Genetics Services)
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 listCreated: 30 Dec 2019, 1:39 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
613752
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- 613752
- OMIM
- 180960
- Clinvar variants
- Variants in AHCY
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
30 Dec 2019, 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).
30 Dec 2019, 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).
30 Dec 2019, Gel status: 0
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ahcy has been removed from the panel.
30 Dec 2019, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
George McGillivray (Victorian Clinical Genetics Services)gene: AHCY was added gene: AHCY was added to Hydrops fetalis_VCGS. Sources: Expert list Mode of inheritance for gene: AHCY was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AHCY were set to 30121674; 20852937 Phenotypes for gene: AHCY were set to 613752 Review for gene: AHCY was set to AMBER