IllnessGenodermatoses with malignant degeneration, differential diagnosis

NGS +

[Sanger]

Group of disorders: Basal cell nevus syndrome, Gardner syndrome, Peutz-Jeghers syndrome, Xeroderma pigmentosum; Dowling-Meara epidermolyis bullosa simplex, Herlitz junctional epidermolysis bullosa, Hallopeau-Siemens recessive dystrophic epidermolysis bullosa

• Allelic: Adrenocortical carcinoma, pediatric (TP53)
• Allelic: Anauxetic dysplasia 1 (RMRP)
• Allelic: Baller-Gerold syndrome (RECQL4)
• Allelic: Bannayan-Riley-Ruvalcaba syndrome (PTEN)
• Allelic: Bart-Pumphrey syndrome (GJB2)
• Allelic: Bone marrow failure syndrome 5 (TP53)
• Allelic: Breast cancer, male, susceptibility to (BRCA2)
• Allelic: Breast-ovarian cancer, familial, 1 (BRCA1)
• Allelic: Breast-ovarian cancer, familial, 2 (BRCA2)
• Allelic: COMMAD syndrome (MITF)
• Allelic: Choroid plexus papilloma (TP53)
• Allelic: Colorectal cancer (TP53)
• Allelic: Colorectal cancer, hereditary nonpolyposis, type 1 (MSH2)
• Allelic: Colorectal cancer, hereditary nonpolyposis, type 2 (MLH1)
• Allelic: Colorectal cancer, hereditary nonpolyposis, type 5 (MSH6)
• Allelic: Colorectal cancer, hereditary nonpolyposis, type 6 (TGFBR2)
• Allelic: Cylindromatosis, familial (CYLD)
• Allelic: Deafness, AD 3A (GJB2)
• Allelic: Deafness, AD 3B (GJB6)
• Allelic: Deafness, AR 1A (GJB2)
• Allelic: Deafness, AR 1B (GJB6)
• Allelic: Deafness, Dig GJB2/GJB6 (GJB6)
• Allelic: Dowling-Degos disease 1 (KRT5)
• Allelic: Dyserythropoietic anemia, congenital, type II (SEC23B)
• Allelic: Dyskeratosis congenita, AD 2 (TERT)
• Allelic: Dyskeratosis congenita, Ar 4 (TERT)
• Allelic: Ectodermal dysplasia 2, Clouston type (GJB6)
• Allelic: Endometrial cancer, familial (MSH6)
• Allelic: Epidermolysis bullosa dystrophica inversa; EBD, Bart type; EBD, localisata variant (COL7A1)
• Allelic: Epidermolysis bullosa simplex, Dowling-Meara type (KRT14, KRT5)
• Allelic: Epidermolysis bullosa simplex, Koebner type (KRT14, KRT5)
• Allelic: Epidermolysis bullosa simplex, recessive 1 (KRT14, KRT5)
• Allelic: Epidermolysis bullosa simplex-MCR (KRT5)
• Allelic: Epidermolysis bullosa simplex-MP (KRT5)
• Allelic: Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 (CYLD)
• Allelic: Glioblastoma 3 (BRCA2)
• Allelic: Glioma susceptibility 1 (TP53)
• Allelic: Glioma susceptibility 9 (POT1)
• Allelic: Holoprosencephaly-7 (PTCH1)
• Allelic: Hystrix-like ichthyosis with deafness (GJB2)
• Allelic: Joubert syndrome 32 (SUFU)
• Allelic: Keratoderma, palmoplantar, with deafness (GJB2)
• Allelic: Leukemia, acute myeloid (TERT)
• Allelic: Lhermitte-Duclos syndrome (PTEN)
• Allelic: Li-Fraumeni syndrome (TP53)
• Allelic: Macrocephaly/autism syndrome (PTEN)
• Allelic: Medulloblastoma (BRCA2)
• Allelic: Medulloblastoma, desmoplastic (SUFU)
• Allelic: Meningioma, familial, susceptibility to (SUFU)
• Allelic: Metaphyseal dysplasia without hypotrichosis (RMRP)
• Allelic: Multiple self-healing squamous epithelioma, susceptibility to (TGFBR1)
• Allelic: Naegeli-Franceschetti-Jadassohn syndrome (KRT14)
• Allelic: Odontoonychodermal dysplasia (WNT10A)
• Allelic: Osteosarcoma (TP53)
• Allelic: Pancreatic cancer 2 (BRCA2)
• Allelic: Pancreatic cancer, susceptibility to, 4 (BRCA1)
• Allelic: Prostate cancer (BRCA2)
• Allelic: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 (TERT)
• Allelic: RAPADILINO syndrome (RECQL4)
• Allelic: Tietz albinism-deafness syndrome (MITF)
• Allelic: Tooth agenesis, selective, 4 (WNT10A)
• Allelic: Trichoepithelioma, multiple familial, 1 (CYLD)
• Allelic: VATER association with macrocephaly and ventriculomegaly (PTEN)
• Allelic: Vohwinkel syndrome (GJB2)
• Allelic: Waardenburg syndrome, type 2A (MITF)
• Allelic: Waardenburg syndrome/ocular albinism, Dig (MITF)
• Allelic: Wilms tumor (BRCA2)
• Basal cell carcinoma 7 (TP53)
• Basal cell carcinoma [panelapp] (ACTRT1)
• Basal cell carcinoma, somatic (PTCH1, PTCH2)
• Basal cell nevus syndrome; Nevoid basal cell carcinoma syndrome (PTCH1, PTCH2, SUFU)
• Bazex–Dupré–Christol syndrome [panelapp] (ACTRT1)
• Bloom syndrome (BLM)
• Brooke-Spiegler syndrome (CYLD)
• Cartilage-hair hypoplasia (RMRP)
• Cowden syndrome (PTEN)
• Cowden syndrome 4 (KLLN)
• Cowden syndrome 5 (PIK3CA)
• Cowden syndrome 6 (AKT1)
• Cowden syndrome 7 (SEC23B)
• Dermatopathia pigmentosa reticularis (KRT14)
• Desmoid disease, hereditary (APC)
• Epidermodysplasia verruciformis (TMC6)
• Epidermodysplasia verruciformis 2 (TMC8)
• Epidermolysis bullosa simplex, Weber-Cockayne type (KRT14, KRT5)
• Fanconi anemia, complementation group D1 (BRCA2)
• Fanconi anemia, complementation group S (BRCA1)
• Gorlin syndrome
• Hermansky-Pudlak syndrome 1 (HPS1)
• Hermansky-Pudlak syndrome 10 (AP3D1)
• Hermansky-Pudlak syndrome 11 (BLOC1S5)
• Hermansky-Pudlak syndrome 2 (AP3B1)
• Hermansky-Pudlak syndrome 3 (HPS3)
• Hermansky-Pudlak syndrome 4 (HPS4)
• Hermansky-Pudlak syndrome 5 (HPS5)
• Hermansky-Pudlak syndrome 6 (HPS6)
• Hermansky-Pudlak syndrome 7 (DTNBP1)
• Hermansky-Pudlak syndrome 8 (BLOC1S3)
• Hermansky-Pudlak syndrome 9 (PLDN)
• Keratitis-ichthyosis-deafness syndrome (GJB2)
• Keratitis-ichthyosis-deafness syndrome [Lit.] (GJB6)
• Loeys-Dietz syndrome 1 (TGFBR1)
• Loeys-Dietz syndrome 2 (TGFBR2)
• Malignant melanoma, somatic (PTEN)
• Melanoma + neural system tumor syndrome (CDKN2A)
• Melanoma, cutaneous malignant, 2 (CDKN2A)
• Melanoma, cutaneous malignant, 3 (CDK4)
• Melanoma, cutaneous malignant, 9 (TERT)
• Melanoma, cutaneous malignant, susceptibility to, 10 (POT1)
• Melanoma, cutaneous malignant, susceptibility to, 8 (MITF)
• Melanoma-pancreatic cancer syndrome (CDKN2A)
• Mismatch repair cancer syndrome (MLH1, MSH2, MSH6)
• Muir-Torrs syndrome (MLH1, MSH2, MSH6)
• Rothmund-Thomson syndrome, type 2 (RECQL4)
• Schopf-Schulz-Passarge syndrome (WNT10A)
• Tumor predisposition syndrome (BAP1)
• Xeroderma pigmentosum, group A (XPA)
• Xeroderma pigmentosum, group C (XPC)
• Xeroderma pigmentosum, group D (ERCC2, -3, -4, -5)
• Xeroderma pigmentosum, group E, DDB-negative subtype (DDB2)
• Xeroderma pigmentosum, variant type (POLH)