Description
This panel is a virtual panel that can form part of the analysis of a broader phenotype, where relevant, using genome or exome data in the NHS Genomic Medicine Service. This is not a primary panel for any GMS clinical indications.

The content of this panel is overseen by NHS Genomic Medicine Service governance.

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.

This panel has been initially created as a merge of genomic entities from the following 2 panels: 
- Adult solid tumours for rare disease v1.21
- Familial Tumours Syndromes of the central & peripheral Nervous system v1.8

65 Entities

0 reviewed, 58 green

List Entity Reviews Mode of inheritance Details
65 Entitiess
Green Green List (high evidence)
AIP
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
Phenotypes
  • Pituitary adenoma 1, multiple types 102200
Tags
Green Green List (high evidence)
APC
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
  • Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8)
Phenotypes
  • Brain, CNS, and PNS Cancer
  • Familial Adenomatous Polyposis
Tags
Green Green List (high evidence)
ATM
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
  • Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8)
Phenotypes
  • Brain, CNS, and PNS Cancer
  • Ataxia Telangiectasia
Tags
Green Green List (high evidence)
BAP1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
Phenotypes
  • Melanocytic Tumor syndrome, Familial Uveal Melanoma
Tags
Green Green List (high evidence)
BMPR1A
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
Phenotypes
  • Hereditary Mixed Polyposis Syndrome
Tags
Green Green List (high evidence)
BRCA1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
Phenotypes
  • Hereditary Breast and Ovarian Cancer
Tags
Green Green List (high evidence)
BRCA2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
Phenotypes
  • Hereditary Breast and Ovarian Cancer
Tags
Green Green List (high evidence)
BRIP1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
Phenotypes
  • predisposition to ovarian cancer
Tags
Green Green List (high evidence)
CDC73
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
Phenotypes
  • Hyperparathyroidism-Jaw Tumor Syndrome
Tags
Green Green List (high evidence)
CDH1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
Phenotypes
  • Hereditary Diffuse Gastric Cancer, Familial Lobular Breast Cancer
Tags
Green Green List (high evidence)
CDK4
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
Phenotypes
  • Hereditary Melanoma
Tags
Green Green List (high evidence)
CDKN1B
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
Phenotypes
  • Thyroid cancer
  • Pituitary adenoma
Tags
Green Green List (high evidence)
CDKN2A
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
Phenotypes
  • Familial Malignant Melanoma and Tumors of the Nervous system, Familial Uveal Melanoma
Tags
Green Green List (high evidence)
DICER1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
Phenotypes
  • DICER1 syndrome, Familial Multinodular Goiter
Tags
Green Green List (high evidence)
EPCAM
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
Phenotypes
  • Lynch syndrome
Tags
Green Green List (high evidence)
EXT1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
Phenotypes
  • Chondrosarcoma 215300
Tags
Green Green List (high evidence)
EXT2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
Phenotypes
  • Exostoses, multiple, type 2 133701
Tags
Green Green List (high evidence)
FH
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
Phenotypes
  • Hereditary Leiomyomatosis and Renal Cell Cancer
Tags
Green Green List (high evidence)
FLCN
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
Phenotypes
  • renal oncocytoma
Tags
Green Green List (high evidence)
11p13 (WAGR syndrome) region Loss
ISCA-37401-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
Phenotypes
  • Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome
  • 194072
Tags
Green Green List (high evidence)
17q11.2 recurrent region (includes NF1) Loss
ISCA-37431-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8)
Phenotypes
  • variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors
  • NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME
  • dysmorphic features, cardiac anomalies and mental retardation
  • NF1 MICRODELETION SYNDROME
  • Chromosome 17q11.2 deletion syndrome, 1.4Mb
  • 613675
Tags
Green Green List (high evidence)
KIT
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
Phenotypes
  • Gastro-Intestinal Stromal Tumor
Tags
Green Green List (high evidence)
LZTR1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8)
Phenotypes
  • {Schwannomatosis-2, susceptibility to}, 615670
  • (originally on Familial schwannomatosis gene panel)
  • familial schwannomatosis
Tags
Green Green List (high evidence)
MAX
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
Phenotypes
  • Familial Pheochromocytoma, adrenal
Tags
Green Green List (high evidence)
MEN1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
  • Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8)
Phenotypes
  • Brain, CNS, and PNS Cancer
  • Multiple Endocrine Neoplasia
Tags
Green Green List (high evidence)
MET
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
Phenotypes
  • Renal cell cancer, papillary carcinoma
Tags
Green Green List (high evidence)
MLH1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
  • Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8)
Phenotypes
  • Brain, CNS, and PNS Cancer
  • CMMRD
  • Lynch Syndrome
Tags
Green Green List (high evidence)
MSH2
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
  • Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8)
Phenotypes
  • Brain, CNS, and PNS Cancer
  • CMMRD
  • Lynch Syndrome
Tags
Green Green List (high evidence)
MSH6
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
  • Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8)
Phenotypes
  • Brain, CNS, and PNS Cancer
  • CMMRD
  • Lynch Syndrome
Tags
Green Green List (high evidence)
MUTYH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
Phenotypes
  • Colorectal cancer
Tags
Green Green List (high evidence)
NF1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
  • Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8)
Phenotypes
  • Melanoma, desmoplastic neurotrophic (2)
  • (originally on Familial schwannomatosis gene panel)
  • Neurofibromatosis, familial spinal, 162210
  • Neurofibromatosis-Noonan syndrome, 601321
  • Neurofibromatosis, Type I
  • Leukemia, juvenile myelomonocytic, 607785
  • Neurofibromatosis, Type 1
  • Neurofibromatosis, type 1, 162200
  • Neurofibromatosis
Tags
Green Green List (high evidence)
NF2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
  • Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8)
Phenotypes
  • Neurofibromatosis, type 2, 101000
  • Acoustic neuroma
  • (originally on Familial schwannomatosis gene panel)
  • Brain, CNS, and PNS Cancer
  • Schwannomatosis, 162091
  • Neurofibromatosis, Type II
  • Neurofibromatosis, Type 2
  • Meningioma, NF2-related, somatic, 607174
Tags
Green Green List (high evidence)
NTHL1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
Phenotypes
  • Colorectal cancer
Tags
Green Green List (high evidence)
PALB2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
  • Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8)
Phenotypes
  • Brain, CNS, and PNS Cancer
  • breast, pancreas
Tags
Green Green List (high evidence)
PMS2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
  • Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8)
Phenotypes
  • Brain, CNS, and PNS Cancer
  • CMMRD
  • Lynch Syndrome
Tags
Green Green List (high evidence)
POLD1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
Phenotypes
  • Colorectal cancer
  • Endometrial cancer
Tags
Green Green List (high evidence)
POLE
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
Phenotypes
  • Colorectal cancer
Tags
Green Green List (high evidence)
PTCH1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
  • Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8)
Phenotypes
  • Brain, CNS, and PNS Cancer
  • Gorlin syndrome, BCC
Tags
Green Green List (high evidence)
PTEN
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
  • Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8)
Phenotypes
  • Cowden Syndrome
  • PTEN hamartoma tumor syndrome
  • Bannayan-Riley-Ruvalcaba syndrome, 153480
  • Prostate cancer, somatic}, 176807
  • {Glioma susceptibility 2}, 613028
  • Cowden syndrome 1, 158350
  • Thyroid carcinoma, follicular, somatic, 188470
  • Cowden syndrome
  • Macrocephaly/autism syndrome, 605309
  • VATER association with macrocephaly and ventriculomegaly, 76950
  • VATER association with macrocephaly and ventriculomegaly, 276950
  • Malignant melanoma, somatic, 155600
  • {Prostate cancer, somatic}, 176807
  • Squamous cell carcinoma, head and neck, somatic, 275355
  • Lhermitte-Duclos syndrome, 158350
  • {Meningioma}, 607174
  • Endometrial carcinoma, somatic, 608089
  • Cowden Disease
Tags
Green Green List (high evidence)
RAD51C
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
Phenotypes
  • Ovarian cancer
Tags
Green Green List (high evidence)
RAD51D
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
Phenotypes
  • Ovarian cancer
Tags
Green Green List (high evidence)
RB1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
Phenotypes
  • Retinoblastoma
Tags
Green Green List (high evidence)
RET
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
Phenotypes
  • Multiple Endocrine Neoplasia
Tags
Green Green List (high evidence)
SDHA
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
Phenotypes
  • gastrointestinal stromal tumors
Tags
Green Green List (high evidence)
SDHAF2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
Phenotypes
  • Familial Paraganglioma and Pheochromocytoma
Tags
Green Green List (high evidence)
SDHB
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
Phenotypes
  • Familial Paraganglioma and Pheochromocytoma
Tags
Green Green List (high evidence)
SDHC
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
Phenotypes
  • Familial Paraganglioma and Pheochromocytoma
Tags
Green Green List (high evidence)
SDHD
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
Phenotypes
  • Familial Paraganglioma and Pheochromocytoma
Tags
Green Green List (high evidence)
SMAD4
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
Phenotypes
  • Hereditary Hemorrhagic Telangiectasia, Juvenile Polyposis
Tags
Green Green List (high evidence)
SMARCA4
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
Phenotypes
  • Ovary with hypercalcemia
  • predisposition to small cell ca
Tags
Green Green List (high evidence)
SMARCB1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
  • Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8)
Phenotypes
  • (originally on Familial schwannomatosis gene panel)
  • Schwannomatosis
  • Atypical rhabdoid tumor predisposition
Tags
Green Green List (high evidence)
SMARCE1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8)
Phenotypes
  • familial spinal and cranial meningiomas
Tags
Green Green List (high evidence)
STK11
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
Phenotypes
  • Peutz Jeghers syndrome
Tags
Green Green List (high evidence)
SUFU
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
  • Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8)
Phenotypes
  • Brain, CNS, and PNS Cancer
  • SUFU associated Medulloblastoma
Tags
Green Green List (high evidence)
TMEM127
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
Phenotypes
  • Familial Pheochromocytoma, adrenal
Tags
Green Green List (high evidence)
TP53
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
  • Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8)
Phenotypes
  • Brain, CNS, and PNS Cancer
  • Li Fraumeni Syndrome
Tags
Green Green List (high evidence)
TSC1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
Phenotypes
  • Tuberous sclerosis type 1
Tags
Green Green List (high evidence)
TSC2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
Phenotypes
  • Tuberous sclerosis type 2
Tags
Green Green List (high evidence)
VHL
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
  • Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8)
Phenotypes
  • Familial Paraganglioma and Pheochromocytoma
  • Hemangioblastoma, cerebellar, somatic
  • Von Hippel-Lindau Syndrome
  • Erythrocytosis, familial, 2, 263400
  • Renal cell carcinoma, somatic, 144700
  • von Hippel-Lindau syndrome, 193300
  • Pheochromocytoma, 171300
Tags
Green Green List (high evidence)
WT1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Green
Phenotypes
  • Familial Wilms tumor
Tags
Amber Amber List (moderate evidence)
CHEK2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Amber
Phenotypes
  • Breast cancer
Tags
Red Red List (low evidence)
ALK
0 reviews
Unknown
Sources
  • Expert Review Red
  • Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8)
Phenotypes
  • Brain, CNS, and PNS Cancer
  • familial neuroblastoma
Tags
Red Red List (low evidence)
NBN
0 reviews
Unknown
Sources
  • Expert Review Red
  • Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8)
Phenotypes
  • Brain, CNS, and PNS Cancer
Tags
Red Red List (low evidence)
PDGFRA
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Adult solid tumours for rare disease (Version 1.21)
  • Expert Review Red
Phenotypes
  • Gastrointestinal stromal tumor
Tags
Red Red List (low evidence)
PHOX2B
0 reviews
Unknown
Sources
  • Expert Review Red
  • Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8)
Phenotypes
  • Brain, CNS, and PNS Cancer
  • susceptibility to neuroblastoma
Tags

Major version comments

Downloads

Download lists

Download Version