Cataract
Gene: FKRPEnsemblGeneIds (GRCh38): ENSG00000181027
EnsemblGeneIds (GRCh37): ENSG00000181027
OMIM: 606596, Gene2Phenotype
FKRP is in 22 panels
2 reviews
Seb Lunke (Victorian Clinical Genetics Services)
Additional Irish case with progressive proximal limb weakness since early adolescence. Mild cataract in one eye, ascertained at age 11. Other eye normal.Created: 8 Jul 2020, 4:40 a.m. | Last Modified: 8 Jul 2020, 4:40 a.m.
Panel Version: 0.180
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Lauren Akesson (Royal Melbourne Hospital)
Two cases reported with cataract (PMID: 20236121; 15833426) with a further case with corneal clouding (PMID 15833426). Subsequent reports in the literature have not reported cataract.Created: 23 Mar 2020, 3:29 a.m. | Last Modified: 23 Mar 2020, 3:29 a.m.
Panel Version: 0.33
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
Publications
Details
- Mode of Inheritance
- 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
- OMIM
- 606596
- Clinvar variants
- Variants in FKRP
- Penetrance
- None
- Publications
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fkrp has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: FKRP were changed from to 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
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: FKRP were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: FKRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fkrp has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FKRP was added gene: FKRP was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FKRP was set to Unknown