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Fetal hydrops

Gene: ALPK3

Green List (high evidence)
ALPK3 (alpha kinase 3)
EnsemblGeneIds (GRCh38): ENSG00000136383
EnsemblGeneIds (GRCh37): ENSG00000136383
OMIM: 617608, Gene2Phenotype
ALPK3 is in 4 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Both biallelic and monoallelic ALPK3 variants are associated with hypertrophic cardiomyopathy (MONDO:0005045). The ClinGen Hereditary Cardiovascular Disease Expert Panel has classified this association as Definitive for autosomal recessive inheritance (https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6312d79f-df12-4ec6-8ce6-0f38f19e617d-2022-02-09T170000.000Z?page=1&size=25&search=) and Strong for Autosomal dominant inheritance (https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ace85164-0b70-46a2-ac6b-253088f4514d-2023-12-19T010000.000Z?page=1&size=25&search=)
Created: 13 Aug 2024, 4:18 p.m. | Last Modified: 13 Aug 2024, 4:18 p.m.
Panel Version: 1.86
Associated with relevant phenotype in OMIM and as strong Gen2Phen gene. At least four variants have been reported in four unrelated cases.
Created: 9 Jul 2024, 11:49 a.m. | Last Modified: 9 Jul 2024, 11:49 a.m.
Panel Version: 1.64

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cardiomyopathy, familial hypertrophic 27, OMIM:618052

Created: 9 Jul 2024, 11:49 a.m.
Last Modified: 9 Jul 2024, 11:49 a.m.
Panel version: 1.86

Irina Adamena (Children's Clinical University Hospital)

Green List (high evidence)

Gene with strong evidence for fetal hydrops (PMID: 33082562)
Sources: Literature
Created: 11 Apr 2024, 3:50 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nonimmune hydrops fetalis

Publications

Created: 11 Apr 2024, 3:50 p.m.

Panel version: 1.64

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nonimmune hydrops fetalis
OMIM
617608
Clinvar variants
Variants in ALPK3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Aug 2024, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ALPK3 were set to PMID: 33082562

13 Aug 2024, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: ALPK3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

9 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

11 Apr 2024, Gel status: 0

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

Irina Adamena (Children's Clinical University Hospital)

gene: ALPK3 was added gene: ALPK3 was added to Fetal hydrops. Sources: Literature Mode of inheritance for gene: ALPK3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALPK3 were set to PMID: 33082562 Phenotypes for gene: ALPK3 were set to Nonimmune hydrops fetalis Review for gene: ALPK3 was set to GREEN