Cerebellar and Pontocerebellar Hypoplasia
Gene: FKRPEnsemblGeneIds (GRCh38): ENSG00000181027
EnsemblGeneIds (GRCh37): ENSG00000181027
OMIM: 606596, Gene2Phenotype
FKRP is in 22 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
PMID: 16476814 - Pons/cerebellar hypoplasia reported in 3/13 patients with MRI results (aged 22 months - 11 years), additional 4/13 had cerebellar cysts. One patient had MED, the other WWS (Walker-Warburg syndrome)
Describes other papers where patients had vermis hypoplasia.
PMID: 21293871 - 2/9 patients with MRI scan had cerebellar atrophy (aged 65, 69 years old), patients had limb-girdle muscular dystrophy 2I
PMID: 20236121 - 2 homozygous siblings with Walker–Warburg syndrome. Postnatal MRI of one sibling shows cerbellar vermis and cortex hypoplasia
Summary: Uncommon feature but reported in >3 patients, more commonly with Walker-Warburg syndrome patients
Sources: Expert ReviewCreated: 28 Apr 2020, 10:46 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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
Publications
Details
- Mode of Inheritance
- 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
- 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 Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fkrp has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)gene: FKRP was added gene: FKRP was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FKRP were set to PMID: 16476814; 21293871; 20236121 Phenotypes for gene: FKRP were set to 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 Review for gene: FKRP was set to GREEN