Malformations of cortical development

Gene: FKRP

Green List (high evidence)

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

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: Recognised on G2P
Created: 15 Dec 2016, 3:49 p.m.

Usha Kini (Oxford Centre for Genomic Medicine)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscle- eye- brain disease; Warburg syndrome

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

History Filter Activity

15 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

15 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

15 Dec 2016, Gel status: 0

Upload gene information

Alice Gardham (Genomics England)

FKRP was added to Malformations of cortical developmentpanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

8 Dec 2016, Gel status: 0

Added New Source

Usha Kini (Oxford Centre for Genomic Medicine)

FKRP was added to Malformations of cortical developmentpanel. Sources: Expert Review

8 Dec 2016, Gel status: 0

Created

Usha Kini (Oxford Centre for Genomic Medicine)

FKRP was created by Ushak