| Panel | Mode of inheritance | Details |
|---|---|---|
7 panels | ||
Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Xeroderma pigmentosum, group A, 278700 |
Green in Childhood solid tumoursSigned-off version 5.11 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Xeroderma pigmentosum, group A, 278700 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes XERODERMA PIGMENTOSUM, GROUP A 278700 |
R-numbers: R78 Signed-off version 8.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Xeroderma pigmentosum, group A, OMIM:278700, Sensory-motor axonal peripheral neuropathy |
Green in Monogenic hearing lossComponent of the following Super Panels:
R-numbers: R67 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Xeroderma pigmentosum, group A, OMIM: 278700 |
Component of the following Super Panels:
Signed-off version 8.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Xeroderma pigmentosum, group A, 278700 |
R-numbers: R227 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Xeroderma pigmentosum, group A, 278700 |