Transplant Co-Morbidity Superpanel
Gene: FKRP
FKRP (fukutin related protein)
EnsemblGeneIds (GRCh38): ENSG00000181027
EnsemblGeneIds (GRCh37): ENSG00000181027
OMIM: 606596, Gene2Phenotype
FKRP is in 22 panels
EnsemblGeneIds (GRCh38): ENSG00000181027
EnsemblGeneIds (GRCh37): ENSG00000181027
OMIM: 606596, Gene2Phenotype
FKRP is in 22 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155
- OMIM
- 606596
- Clinvar variants
- Variants in FKRP
- Penetrance
- None
- Publications
-
- PMID: 32914449
- Panels with this gene
-
- Cerebellar and Pontocerebellar Hypoplasia
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- Cobblestone Malformations
- Prepair 1000+
- Cardiomyopathy_Paediatric
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Transplant Co-Morbidity Superpanel
- Genetic Epilepsy
- Hydrocephalus_Ventriculomegaly
- Muscular dystrophy and myopathy_Paediatric
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Congenital Disorders of Glycosylation
- Fetal anomalies
- Additional findings_Paediatric
- Arthrogryposis
- Mendeliome
- Dilated Cardiomyopathy
- Cataract
- Prepair 500+
- Callosome
History Filter Activity
1 Aug 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: FKRP was added gene: FKRP was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FKRP were set to PMID: 32914449 Phenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155