Search results for GJB2

Gene symbol Genotype Mutation consequence Disease Panels Go to page
GJB2 biallelic_autosomal absent gene product DEAFNESS AUTOSOMAL RECESSIVE TYPE 1A Skin
GJB2 monoallelic_autosomal altered gene product structure PPK Vohwinkel classical Skin
GJB2 monoallelic_autosomal altered gene product structure PALMOPLANTAR KERATODERMA WITH DEAFNESS Skin
GJB2 monoallelic_autosomal altered gene product structure Knuckle pads, leuconychia and sensorineural deafness Skin
GJB2 monoallelic_autosomal altered gene product structure VOHWINKEL SYNDROME Skin
GJB2 monoallelic_autosomal altered gene product structure ICHTHYOSIS HYSTRIX-LIKE WITH DEAFNESS SYNDROME Skin
GJB2 monoallelic_autosomal altered gene product structure BART-PUMPHREY SYNDROME Skin