Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Proteinuric renal disease v1.157 | MAFB | Eleanor Williams Phenotypes for gene: MAFB were changed from to FSGS with Duane retraction syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v1.156 | MAFB | Eleanor Williams Publications for gene: MAFB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v1.16 | MAFB | Eleanor Williams reviewed gene: MAFB: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID:29779709, PMID: 22387013; Phenotypes: FSGS with Duane retraction syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v1.15 | MAFB |
Eleanor Williams gene: MAFB was added gene: MAFB was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: MAFB was set to |