Cerebellar hypoplasia

Gene: FKRP

Green List (high evidence)

FKRP (fukutin related protein)
EnsemblGeneIds (GRCh38): ENSG00000181027
EnsemblGeneIds (GRCh37): ENSG00000181027
OMIM: 606596, Gene2Phenotype
FKRP is in 22 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Cerebellar abnormalities are a feature of MEB disease
Created: 16 Nov 2016, 9:35 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153

Publications

History Filter Activity

22 Feb 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

22/02/2017: Panel revised after internal clinical review and further curation.

19 Dec 2016, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for FKRP were set to 15121789

19 Dec 2016, Gel status: 4

Set Mode of Inheritance

Alice Gardham (Genomics England)

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

16 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

14 Nov 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FKRP was created by ellenmcdonagh

14 Nov 2016, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

FKRP was added to Cerebellar hypoplasiapanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN