Genes in panel
STRs in panel
Prev Next

Genetic epilepsy syndromes

Gene: FKRP

Amber List (moderate evidence)

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

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: Alison Callaway and John Taylor. Suggested gene rating: Red.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Almost all reported disease-causing variants in FKRP are associated with limb-girdle muscular dystrophy.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 613153; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation) type B, 606612; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 5, 607155

Louise Daugherty (Genomics England Curator)

Comment on publications: MDC1C is a form of congenital muscular dystrophy with mental retardation and structural brain abnormalities and belongs to a group of disorders resulting from defective glycosylation of dystrophin-associated glycoprotein-1, collectively known as dystroglycanopathies. External expert review notes Green status, but there is not enough evidence to date to associate this gene with seizures, even as a secondary phenotype, so I have kept this gene Amber on this panel until further evidence.
Created: 30 Nov 2018, 1:54 p.m.
Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panel
Created: 15 Nov 2018, 2:54 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are a feature of the dystroglycanopathies.
Created: 13 Aug 2018, 11:22 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

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

History Filter Activity

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to FKRP.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to FKRP.

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are a feature of the

30 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

30 Nov 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: FKRP were set to 14652796; 234206531; 11741828; 11592034

30 Nov 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: FKRP were set to 14652796

29 Nov 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: FKRP were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153; seizures; Walker-warburg syndrome or muscle-eye-brain disease to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153; seizures; Walker-warburg syndrome or muscle-eye-brain disease; Muscular dystrophy, congenital, 1c

29 Nov 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: FKRP were set to

29 Nov 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: FKRP were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153; seizures to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153; seizures; Walker-warburg syndrome or muscle-eye-brain disease

29 Nov 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: FKRP were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153; seizures

29 Nov 2018, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

15 Nov 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: FKRP were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to FKRP. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

FKRP was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

FKRP was created by Sarah Leigh