DDG2P
Gene: RBCK1

RBCK1 (RANBP2-type and C3HC4-type zinc finger containing 1)
EnsemblGeneIds (GRCh38): ENSG00000125826
EnsemblGeneIds (GRCh37): ENSG00000125826
OMIM: 610924, Gene2Phenotype
RBCK1 is in 12 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for RBCK1-related polyglucosan body cardiac and skeletal myopathy with or without immunodeficiency are strong, biallelic_autosomal and loss of function (PMIDs: 23798481, 32187699, 35017290, 38077957, 38329383, 38588043, 38922716). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03754.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
RBCK1-related polyglucosan body cardiac and skeletal myopathy with or without immunodeficiency; MONDO:0014389; OMIM:615895.0

Publications

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

RBCK1-related polyglucosan body cardiac and skeletal myopathy with or without immunodeficiency
MONDO:0014389
OMIM:615895.0

OMIM

610924

Clinvar variants

Variants in RBCK1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: RBCK1 was added gene: RBCK1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RBCK1 were set to 35017290; 38077957; 38329383; 38588043; 38922716; 32187699; 23798481 Phenotypes for gene: RBCK1 were set to RBCK1-related polyglucosan body cardiac and skeletal myopathy with or without immunodeficiency; MONDO:0014389; OMIM:615895.0

DDG2P Gene: RBCK1