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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 4 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 11:09 a.m. | Last Modified: 26 Sep 2024, 11:09 a.m.
Panel Version: 4.192
This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.192

Natalie Chandler (North Thames GLH)

Green List (high evidence)

Green on cardiomyopathy panels; monoallelic variants late onset/variable penetrance. Biallelic more severe phenotype. PMID:26846950 - 5 patients from 3 unrelated families with pediatric cardiomyopathy caused by homozygous truncating mutations in ALPK3. 2 cases had NIHF and enlarged heart - others detected at birth severe biventricular dilation/hypertrophy. PMID:28630369 - Fetal echocardiography at 21 wk of gestation of the index case demonstrated cardiomegaly (heart/thorax ratio of 0.8), decreased cardiac contractility, and thickened trabecular layer and moderator band. Green.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cardiomyopathy, familial hypertrophic 27, OMIM:618052

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

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

History Filter Activity

26 Sep 2024, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: ALPK3. Tag Q3_24_NHS_review was removed from gene: ALPK3.

26 Sep 2024, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to ALPK3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

30 Aug 2024, Gel status: 2

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: ALPK3. Tag Q3_24_NHS_review tag was added to gene: ALPK3.

29 Aug 2024, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ALPK3 was added gene: ALPK3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ALPK3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALPK3 were set to 26846950; 28630369 Phenotypes for gene: ALPK3 were set to Cardiomyopathy, familial hypertrophic 27, OMIM:618052