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Fetal anomalies

Gene: ALPK3

Green List (high evidence)

ALPK3 (alpha kinase 3)
EnsemblGeneIds (GRCh38): ENSG00000136383
EnsemblGeneIds (GRCh37): ENSG00000136383
OMIM: 617608, Gene2Phenotype
ALPK3 is in 7 panels

2 reviews

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Severe neonatal presentation of cardiomyopathy with bi-allelic variants, including antenatal onset with hydrops in 2/7 reported individuals in PMID 26846950.

PMID 28630369 reports male infant diagnosed antenatally with cardiomyopathy after birth. Born to a nonconsanguineous family with a past history of a male fetus that died because of cardiac abnormalities at 30 wk of gestation.
Sources: Expert list, Literature
Created: 22 Nov 2021, 5:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cardiomyopathy, familial hypertrophic 27 - #618052

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Severe neonatal presentation of cardiomyopathy with bi-allelic variants, including antenatal onset with hydrops in 2/7 reported individuals in PMID 26846950.
Sources: Expert list
Created: 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 Green
  • Literature
  • Expert list
  • Expert Review Amber
  • Expert list
Phenotypes
  • Cardiomyopathy, familial hypertrophic 27 - #618052
OMIM
617608
Clinvar variants
Variants in ALPK3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alpk3 has been classified as Green List (High Evidence).

22 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alpk3 has been classified as Green List (High Evidence).

22 Nov 2021, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: ALPK3 was added gene: ALPK3 was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: ALPK3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALPK3 were set to PMID 26846950. Phenotypes for gene: ALPK3 were set to Cardiomyopathy, familial hypertrophic 27 - #618052 Review for gene: ALPK3 was set to GREEN