Structural eye disease
Gene: FKRP
Van reeuwijk: one family with Walker -Warburg syndrome and microphthalmia with homozygous variant in start codon segregating in parents; Bernabe one case with microphthalmia and coloboma with homozygous missense, segregation unknown; Kawahara zebrafish model; Chan: mouse model.Created: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91
DB Van reeuwijk: one family with Walker -Warburg syndrome and microphthalmia; Bernabe one family; Kawahara zebrafish model; Chan: mouse modelCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes
Muscular Dystrophy-Dystroglycanopathy, Type A, 5, MDDGA5
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Van reeuwijk: one family with Walker -Warburg syndrome and microphthalmia; Bernabe one family; Kawahara zebrafish model; Chan: mouse modelCreated: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5
Publications
Gene: fkrp has been classified as Amber List (Moderate Evidence).
Publications for gene FKRP were changed from 20675713; 19955119; 20236121; 15121789 to 15121789; 20675713; 19955119; 20236121
Source London North GLH was added to FKRP.
Phenotypes for gene: FKRP were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 606612
gene: FKRP was added gene: FKRP was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FKRP were set to 20675713; 19955119; 20236121; 15121789 Phenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5