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Cardiomyopathies - including childhood onset

Gene: FKRP

Amber List (moderate evidence)

FKRP (fukutin related protein)
EnsemblGeneIds (GRCh38): ENSG00000181027
EnsemblGeneIds (GRCh37): ENSG00000181027
OMIM: 606596, Gene2Phenotype
FKRP is in 22 panels

1 review

Ivone Leong (Genomics England Curator)

I don't know

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

History Filter Activity

3 Dec 2019, Gel status: 2

Set mode of inheritance

Ivone Leong (Genomics England Curator)

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

2 Dec 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

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