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  3. RBCK1
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Cardiomyopathy_Paediatric

Gene: RBCK1

Green List (high evidence)
RBCK1 (RANBP2-type and C3HC4-type zinc finger containing 1)
EnsemblGeneIds (GRCh38): ENSG00000125826
EnsemblGeneIds (GRCh37): ENSG00000125826
OMIM: 610924, Gene2Phenotype
RBCK1 is in 9 panels

2 reviews

Tiong Tan (Victorian Clinical Genetics Services)

Comment when marking as ready: Need to add to immune superpanel
Created: 12 Apr 2021, 6:03 a.m. | Last Modified: 12 Apr 2021, 6:03 a.m.
Panel Version: 0.64
Phenotype is OMIM 615895 POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY
Created: 12 Apr 2021, 6 a.m. | Last Modified: 12 Apr 2021, 6 a.m.
Panel Version: 0.63

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 12 Apr 2021, 6 a.m.
Last Modified: 12 Apr 2021, 6 a.m.
Panel version: 0.63

John Christodoulou (Murdoch Children's Research Institute)

Green List (high evidence)

is in OMIM - 620934 - with multiple cases
Created: 12 Apr 2021, 12:57 a.m. | Last Modified: 12 Apr 2021, 12:57 a.m.
Panel Version: 0.63

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
myopathy; immunodeficiency; cardiomyopathy

Publications

Created: 12 Apr 2021, 12:57 a.m.
Last Modified: 12 Apr 2021, 12:57 a.m.
Panel version: 0.63

History Filter Activity

12 Apr 2021, Gel status: 3

Set publications

Tiong Tan (Victorian Clinical Genetics Services)

Publications for gene: RBCK1 were set to PMID: 7971833

12 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

Gene: rbck1 has been classified as Green List (High Evidence).

12 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

Gene: rbck1 has been classified as Green List (High Evidence).

12 Apr 2021, Gel status: 0

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

John Christodoulou (Murdoch Children's Research Institute)

gene: RBCK1 was added gene: RBCK1 was added to Cardiomyopathy_Paediatric. Sources: Other Mode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RBCK1 were set to PMID: 7971833 Penetrance for gene: RBCK1 were set to Complete