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  3. ALPK3
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Paediatric or syndromic cardiomyopathy

Gene: ALPK3

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

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 24 Feb 2025, 11:50 a.m. | Last Modified: 24 Feb 2025, 11:50 a.m.
Panel Version: 6.7

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Created: 24 Feb 2025, 11:50 a.m.
Last Modified: 24 Feb 2025, 11:50 a.m.
Panel version: 6.7

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, 1:30 p.m. | Last Modified: 13 Aug 2024, 1:30 p.m.
Panel Version: 5.10

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Created: 13 Aug 2024, 1:30 p.m.
Last Modified: 13 Aug 2024, 1:30 p.m.
Panel version: 5.10

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Created: 2 Dec 2019, 3:58 p.m.
Last Modified: 2 Dec 2019, 3:58 p.m.
Panel version: 0.16

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Cardiomyopathy, familial hypertrophic 27, 618052
OMIM
617608
Clinvar variants
Variants in ALPK3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Feb 2025, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_NHS_review was removed from gene: ALPK3. Tag Q3_24_MOI was removed from gene: ALPK3.

24 Feb 2025, Gel status: 3

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

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

13 Aug 2024, Gel status: 3

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_NHS_review tag was added to gene: ALPK3. Tag Q3_24_MOI tag was added to gene: ALPK3.

13 Aug 2024, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ALPK3 were set to

2 Dec 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ALPK3 were changed from to Cardiomyopathy, familial hypertrophic 27, 618052

2 Dec 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

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

2 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: ALPK3 was added gene: ALPK3 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ALPK3 was set to