Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200, DEAFNESS, AUTOSOMAL RECESSIVE |
Green in Ichthyosis and erythrokeratodermaR-numbers: R165 Signed-off version 3.2 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Erythrokeratodermia variabilis et progressiva, OMIM:133200 |
Green in Monogenic hearing lossComponent of the following Super Panels:
R-numbers: R67 Signed-off version 4.50 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes hearing loss, Nonsyndromic Hearing Loss, Dominant, Erythrokeratodermia variabilis et progressiva, 133200, Deafness, autosomal dominant 2B, 612644, Deafness, autosomal recessive, Deafness, autosomal dominant, with peripheral neuropathy, Deafness, digenic, GJB2/GJB3, 220290 |
Green in Pigmentary skin disordersR-numbers: R236 Signed-off version 3.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1, EKVP1, Erythrokeratodermia variabilis |
R-numbers: R332 Signed-off version 3.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Erythrokeratodermia variabilis et progressiva 1, OMIM:133200 |