Panel | Mode of inheritance | Details |
---|---|---|
7 panels | ||
Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Xeroderma pigmentosum, group B, 610651 |
R-numbers: R31 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Trichothiodystrophy |
Green in Childhood solid tumoursR-numbers: R359 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Xeroderma pigmentosum, group B, 610651 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B 610651, TRICHOTHIODYSTROPHY PHOTOSENSITIVE 601675 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B, TRICHOTHIODYSTROPHY PHOTOSENSITIVE |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Xeroderma pigmentosum, group B, 610651Trichothiodystrophy, 601675, XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B (XP-B) |
R-numbers: R227 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Xeroderma pigmentosum, group B, 610651, Trichothiodystrophy, 601675 |