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Dilated Cardiomyopathy and conduction defects v1.65 | FKTN | Ivone Leong Classified gene: FKTN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy and conduction defects v1.65 | FKTN | Ivone Leong Added comment: Comment on list classification: Demoted from Green to Amber based on the expert reviews and also based on the gene rating on Dilated cardiomyopathy - adult and teen (version 1.0) which has been signed off by the GMS cardiology specialist group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy and conduction defects v1.65 | FKTN | Ivone Leong Gene: fktn has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy and conduction defects v1.55 | FKTN | Matthew Edwards reviewed gene: FKTN: Rating: RED; Mode of pathogenicity: None; Publications: 17878207, 18177472, 18752264 , 19266496, 27065010; Phenotypes: Walker-Warburg syndrome (WWS), Fukuyama congenital muscular dystrophy, Cardiomyopathy, dilated, 1X; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy and conduction defects v1.55 | FKTN | Rebecca Whittington commented on gene: FKTN: Cardiomyopathy, dilated, 1X OMIM#611615; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, OMIM#253800; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, OMIM#613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, OMIM#611588. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy and conduction defects v1.54 | FKTN | Rebecca Whittington commented on gene: FKTN: HGMD: 4 variants 3 x DM but older literature. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy and conduction defects v1.53 | FKTN | Rebecca Whittington reviewed gene: FKTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy and conduction defects v1.47 | FKTN | Ellen McDonagh Source South West GLH was added to FKTN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy and conduction defects v1.46 | FKTN | Ellen McDonagh reviewed gene: FKTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy and conduction defects v1.45 | FKTN | Ellen McDonagh Source London South GLH was added to FKTN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy and conduction defects v1.40 | FKTN | Oxford Medical Genetics Laboratory edited their review of gene: FKTN: Added comment: Not fully reviewed however doesn't appear to be associated with primary non-syndromic teen/adult onset DCM.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy and conduction defects v1.39 | FKTN |
Ellen McDonagh Source Wessex and West Midlands GLH was added to FKTN. Rating Changed from Green List (high evidence) to Green List (high evidence) |