Hydrops fetalis
Gene: ALPK3
ALPK3 (alpha kinase 3)
EnsemblGeneIds (GRCh38): ENSG00000136383
EnsemblGeneIds (GRCh37): ENSG00000136383
OMIM: 617608, Gene2Phenotype
ALPK3 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000136383
EnsemblGeneIds (GRCh37): ENSG00000136383
OMIM: 617608, Gene2Phenotype
ALPK3 is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Severe neonatal presentation of cardiomyopathy with bi-allelic variants, including antenatal onset with hydrops in 2/7 reported individuals in PMID 26846950.
Sources: Expert listCreated: 22 Aug 2020, 8:23 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cardiomyopathy, familial hypertrophic 27, MIM# 618052
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Cardiomyopathy, familial hypertrophic 27, MIM# 618052
- OMIM
- 617608
- Clinvar variants
- Variants in ALPK3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
22 Aug 2020, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: alpk3 has been classified as Amber List (Moderate Evidence).
22 Aug 2020, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: alpk3 has been classified as Amber List (Moderate Evidence).
22 Aug 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ALPK3 was added gene: ALPK3 was added to Hydrops fetalis. Sources: Expert list Mode of inheritance for gene: ALPK3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALPK3 were set to 26846950 Phenotypes for gene: ALPK3 were set to Cardiomyopathy, familial hypertrophic 27, MIM# 618052 Review for gene: ALPK3 was set to AMBER