PanelApp (test)
  1. Genes and Genomic Entities
  2. FKRP

FKRP

fukutin related protein
OMIM: 606596, ClinGen, DECIPHER

22 panels

Panel Reviews Mode of inheritance Details
22 panels

Green FKRP in Cobblestone Malformations


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, MIM# 613153

Green FKRP in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 MIM#613153
  • Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 MIM#606612
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 MIM#607155

Amber FKRP in Cataract


Level 2: Ophthalmological disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 5
  • Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation) type B, 5
  • Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 5

Green FKRP in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153
  • Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155

Green FKRP in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153
  • Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155
  • Walker–Warburg syndrome

Green FKRP in Dilated Cardiomyopathy


Level 2: Cardiovascular disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155

Green FKRP in Hydrocephalus_Ventriculomegaly


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green FKRP in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy MONDO:0018276

Green FKRP in Muscular dystrophy and myopathy_Paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • myopathy caused by variation in FKRP MONDO:0700066

Amber FKRP in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, MIM#613153

Green FKRP in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green FKRP in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • myopathy caused by variation in FKRP MONDO:0700066

Green FKRP in Limb-Girdle Muscular Dystrophy and Distal Myopathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Limb-girdle muscular dystrophy
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type

Green FKRP in Rhabdomyolysis and Metabolic Myopathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155

Green FKRP in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3)

Amber FKRP in Cardiomyopathy_Paediatric


Level 2: Cardiovascular disorders
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS

Green FKRP in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Muscle-eye-brain disease
  • Muscular dystrophy, limb girdle 2I

Green FKRP in Fetal anomalies


Version 2.0

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153

Green FKRP in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myopathy caused by variation in FKRP MONDO:0700066

Red FKRP in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Muscular dystrophy-dystroglycanopathy MONDO:0018276

Green FKRP in Transplant Co-Morbidity


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155

Green FKRP in Prepair 500+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 (MIM#613153)
  • Muscular dystrophy-dystroglycanopathy (congenital with or without intellectual development), type B, 5 (MIM#606612)
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (MIM#607155)