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| Structural eye disease v0.92 | FKRP | Ivone Leong Classified gene: FKRP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.92 | FKRP | Ivone Leong Gene: fkrp has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.91 | FKRP | Nicola Ragge edited their review of gene: FKRP: Added comment: 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. ; Changed rating: AMBER; Changed publications: 20236121, 15121789, 19955119, 20675713 ; Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.89 | FKRP | Ivone Leong Publications for gene FKRP were changed from 20675713; 19955119; 20236121; 15121789 to 15121789; 20675713; 19955119; 20236121 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | FKRP | Nicola Ragge reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: ; Publications: 20236121, 15121789, 19955119, 20675713 ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.60 | FKRP | Mariya Moosajee reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular Dystrophy-Dystroglycanopathy, Type A, 5, MDDGA5; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.59 | FKRP | Ivone Leong Source London North GLH was added to FKRP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.56 | FKRP | Ivone Leong 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | FKRP | Ivone Leong edited their review of gene: FKRP: Changed phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | FKRP | Ivone Leong reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: ; Publications: 20236121, 15121789, 19955119, 20675713 ; Phenotypes: Holoprosencephaly 9, 610829; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | FKRP |
Ivone Leong 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 |
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