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Monogenic Diabetes v0.142 POC5 Zornitza Stark Marked gene: POC5 as ready
Monogenic Diabetes v0.142 POC5 Zornitza Stark Gene: poc5 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.142 POC5 Zornitza Stark Classified gene: POC5 as Green List (high evidence)
Monogenic Diabetes v0.142 POC5 Zornitza Stark Gene: poc5 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.141 POC5 Zornitza Stark gene: POC5 was added
gene: POC5 was added to Monogenic Diabetes. Sources: Literature
Mode of inheritance for gene: POC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POC5 were set to 40590205; 29272404
Phenotypes for gene: POC5 were set to Ciliopathy, MONDO:0005308, POC5-related
Review for gene: POC5 was set to GREEN
Added comment: Twelve families reported with bi-allelic variants in this gene and rod-cone dystrophy, diabetes mellitus with severe insulin resistance and partial lipodystrophy, kidney disease, and muscle cramps. Single individual previously reported in 2018 with isolated RP.
Sources: Literature