Glycogen storage disease

Gene: RBCK1

Amber List (moderate evidence)

RBCK1 (RANBP2-type and C3HC4-type zinc finger containing 1)
EnsemblGeneIds (GRCh38): ENSG00000125826
EnsemblGeneIds (GRCh37): ENSG00000125826
OMIM: 610924, Gene2Phenotype
RBCK1 is in 11 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 8 variants reported in at least 6 unrelated cases.
Created: 2 Mar 2021, 1:39 p.m. | Last Modified: 2 Mar 2021, 1:39 p.m.
Panel Version: 1.5
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 2 Mar 2021, 1:34 p.m. | Last Modified: 2 Mar 2021, 1:34 p.m.
Panel Version: 1.5

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Biallelic variants cause polyglucosan storage myopathy associated with progressive muscle weakness and cardiomyopathy, which is characterised as a glycogen storage disorder. At least 9 families reported.
Sources: Expert list
Created: 19 Jul 2020, 11:43 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polyglucosan body myopathy 1 with or without immunodeficiency MIM#615895

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Polyglucosan body myopathy 1 with or without immunodeficiency OMIM:615895
  • polyglucosan body myopathy 1 with or without immunodeficiency MONDO:0014389
Tags
Q2_21_rating
OMIM
610924
Clinvar variants
Variants in RBCK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Mar 2021, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: RBCK1 were changed from Polyglucosan body myopathy 1 with or without immunodeficiency MIM#615895 to Polyglucosan body myopathy 1 with or without immunodeficiency OMIM:615895; polyglucosan body myopathy 1 with or without immunodeficiency MONDO:0014389

2 Mar 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: RBCK1.

2 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: rbck1 has been classified as Amber List (Moderate Evidence).

19 Jul 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: RBCK1 was added gene: RBCK1 was added to Glycogen storage disease. Sources: Expert list Mode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RBCK1 were set to 23798481; 23104095 Phenotypes for gene: RBCK1 were set to Polyglucosan body myopathy 1 with or without immunodeficiency MIM#615895 Review for gene: RBCK1 was set to GREEN gene: RBCK1 was marked as current diagnostic