Limb girdle muscular dystrophy

Gene: FKRP

Green List (high evidence)

FKRP (fukutin related protein)
EnsemblGeneIds (GRCh38): ENSG00000181027
EnsemblGeneIds (GRCh37): ENSG00000181027
OMIM: 606596, Gene2Phenotype
FKRP is in 21 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Listed as associated with Limb Girdle Muscular Dystrophy by Gene Advisor (June 2016), Steve Abbs
Created: 27 Jul 2016, 8:23 a.m.

Details

History Filter Activity

27 Jul 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.

27 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 May 2016, Gel status: 3

Set publications

Ellen Thomas (Genomics England Curator)

Publications for FKRP were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/

27 May 2016, Gel status: 3

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

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

12 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

FKRP was added to Limb girdle muscular dystrophypanel. Sources: Eligibility statement prior genetic testing

28 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

FKRP was added to Limb girdle muscular dystrophypanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

28 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

FKRP was added to Limb girdle muscular dystrophypanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

28 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FKRP was added to Limb girdle muscular dystrophypanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen