Description
This panel is used for clinical indications in the NHS Genomic Medicine Service. It is also used for participants in the Cancer programme of the 100,000 Genomes Project.

Application of panels for WGS germline cancer susceptibility findings in the Genomic Medicine Service:
-Three broad panels spanning cancer susceptibility genes will be applied for Tier 3 findings. These are:
Tumour predisposition - childhood onset: https://panelapp.genomicsengland.co.uk/panels/243/
Adult solid tumours cancer susceptibility: https://panelapp.genomicsengland.co.uk/panels/245/
Haematological malignancies cancer susceptibility: https://panelapp.genomicsengland.co.uk/panels/59/

Notes relating to application of this panel for germline findings for WGS:
-Only genes with strong evidence of association with cancer are included as Green on this panel for genetically heterogeneous conditions such as Fanconi anaemia (FA), Dyskeratosis congenita (DC), RASopathies and Xeroderma pigmentosum (XP).

General Information:
-Further information on the testing criteria and any overlapping clinical indications can be found within the 'National Genomic Test Directory for cancer' document at: https://www.england.nhs.uk/publication/national-genomic-test-directories/.

-The National Genomic Test Directory for Cancer has been developed under the guidance of NHS England's Cancer experts.

-The content of this panel is overseen by the NHS Genomic Medicine Service governance. In addition to the evidence for involvement of a gene in cancer susceptibility, this requires consideration of technical aspects of the assay(s) available.

-Please contact your Genomic Laboratory Hub for information regarding specific queries. More information about Genomic Laboratory Hubs can be found here: https://www.england.nhs.uk/genomics/genomic-laboratory-hubs/

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the Cancer programme eligibility criteria refer to: https://www.genomicsengland.co.uk/cancer-programme/eligibility/

5 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Clare Turnbull (Queen Mary University London)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Israel Gomy (Dana-Farber Cancer Institute)

    Group: Other
    Workplace: Research lab

103 Entities

97 reviewed, 82 green

List Entity Reviews Mode of inheritance Details
103 Entitiess
Green Green List (high evidence)
APC
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Familial Adenomatous Polyposis
Tags
Green Green List (high evidence)
ATM
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ataxia Telangiectasia
Tags
Green Green List (high evidence)
BAP1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Melanocytic Tumor syndrome, Familial Uveal Melanoma
Tags
Green Green List (high evidence)
BMPR1A
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hereditary Mixed Polyposis Syndrome
Tags
Green Green List (high evidence)
BRCA1
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hereditary Breast and Ovarian Cancer
Tags
Green Green List (high evidence)
BRCA2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hereditary Breast and Ovarian Cancer
Tags
Green Green List (high evidence)
BRIP1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • predisposition to ovarian cancer
Tags
Green Green List (high evidence)
CBL
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563
Tags
Green Green List (high evidence)
CDC73
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hyperparathyroidism-Jaw Tumor Syndrome
Tags
Green Green List (high evidence)
CDH1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hereditary Diffuse Gastric Cancer, Familial Lobular Breast Cancer
Tags
Green Green List (high evidence)
CDK4
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hereditary Melanoma
Tags
Green Green List (high evidence)
CDKN1B
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Thyroid cancer
  • Pituitary adenoma
Tags
Green Green List (high evidence)
CDKN2A
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Familial Malignant Melanoma and Tumors of the Nervous system, Familial Uveal Melanoma
Tags
Green Green List (high evidence)
DDB2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Xeroderma pigmentosum, group E, DDB-negative subtype, 278740
Tags
Green Green List (high evidence)
DICER1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • DICER1 syndrome, Familial Multinodular Goiter
Tags
Green Green List (high evidence)
EPCAM
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Lynch syndrome
Tags
Green Green List (high evidence)
ERCC2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Xeroderma pigmentosum, group D, 278730
Tags
Green Green List (high evidence)
ERCC3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Xeroderma pigmentosum, group B, 610651
Tags
Green Green List (high evidence)
ERCC4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Fanconi anemia, complementation group Q, 615272
  • Xeroderma pigmentosum, group F, 278760
Tags
Green Green List (high evidence)
ERCC5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Xeroderma pigmentosum, group G, 278780
Tags
Green Green List (high evidence)
FANCA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Fanconi Anemia
Tags
Green Green List (high evidence)
FANCB
1 review
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Fanconi anemia, complementation group B, 300514
Tags
Green Green List (high evidence)
FANCC
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Fanconi Anemia
Tags
Green Green List (high evidence)
FANCD2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Fanconi Anemia
Tags
Green Green List (high evidence)
FANCE
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Fanconi Anemia
Tags
Green Green List (high evidence)
FANCF
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Fanconi Anemia
Tags
Green Green List (high evidence)
FANCG
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Fanconi Anemia
Tags
Green Green List (high evidence)
FANCI
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Fanconi Anemia
Tags
Green Green List (high evidence)
FANCL
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Fanconi Anemia
Tags
Green Green List (high evidence)
FH
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hereditary Leiomyomatosis and Renal Cell Cancer
Tags
Green Green List (high evidence)
FLCN
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • renal oncocytoma
Tags
Green Green List (high evidence)
HRAS
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Costello syndrome
Tags
Green Green List (high evidence)
KIT
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Gastro-Intestinal Stromal Tumor
Tags
Green Green List (high evidence)
KRAS
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Noonan syndrome 3 609942
  • Cardiofaciocutaneous syndrome 2 615278
Tags
Green Green List (high evidence)
MAX
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Familial Pheochromocytoma, adrenal
Tags
Green Green List (high evidence)
MEN1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Multiple Endocrine Neoplasia
Tags
Green Green List (high evidence)
MET
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Renal cell cancer, papillary carcinoma
Tags
Green Green List (high evidence)
MLH1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Lynch Syndrome
  • CMMRD
Tags
Green Green List (high evidence)
MSH2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Lynch Syndrome
  • CMMRD
Tags
Green Green List (high evidence)
MSH6
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Lynch Syndrome
  • CMMRD
Tags
Green Green List (high evidence)
MUTYH
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Colorectal cancer
Tags
Green Green List (high evidence)
NF1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Neurofibromatosis
Tags
Green Green List (high evidence)
NF2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Acoustic neuroma
Tags
Green Green List (high evidence)
NRAS
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cardio-Facio-cutanenous syndrome
  • Noonan syndrome 6 613224
  • CFC Syndrome
Tags
Green Green List (high evidence)
NTHL1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Colorectal cancer
Tags
Green Green List (high evidence)
PALB2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • breast, pancreas
Tags
Green Green List (high evidence)
PMS2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Lynch Syndrome
  • CMMRD
Tags
Green Green List (high evidence)
POLD1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Colorectal cancer
  • Endometrial cancer
Tags
Green Green List (high evidence)
POLE
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Colorectal cancer
Tags
Green Green List (high evidence)
POLH
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Xeroderma pigmentosum, variant type, 278750
Tags
Green Green List (high evidence)
PTCH1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Gorlin syndrome, BCC
Tags
Green Green List (high evidence)
PTEN
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cowden syndrome
Tags
Green Green List (high evidence)
PTPN11
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Noonan syndrome
Tags
Green Green List (high evidence)
RAD51C
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ovarian cancer
Tags
Green Green List (high evidence)
RAD51D
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ovarian cancer
Tags
Green Green List (high evidence)
RAF1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • LEOPARD syndrome 2 611554
  • Noonan syndrome 5 611553
Tags
Green Green List (high evidence)
RB1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Retinoblastoma
Tags
Green Green List (high evidence)
RET
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Multiple Endocrine Neoplasia
Tags
Green Green List (high evidence)
RTEL1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 5 615190
  • 615190 DC type 4 and 5
  • 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related
  • Dyskeratosis congenita, autosomal dominant 4, 615190
  • Dyskeratosis congenita, autosomal recessive 5, 615190
  • 615190 Dyskeratosis congenita
  • 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3
Tags
Green Green List (high evidence)
SDHA
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • gastrointestinal stromal tumors
Tags
Green Green List (high evidence)
SDHAF2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Familial Paraganglioma and Pheochromocytoma
Tags
Green Green List (high evidence)
SDHB
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Familial Paraganglioma and Pheochromocytoma
Tags
Green Green List (high evidence)
SDHC
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Familial Paraganglioma and Pheochromocytoma
Tags
Green Green List (high evidence)
SDHD
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Familial Paraganglioma and Pheochromocytoma
Tags
Green Green List (high evidence)
SHOC2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Noonan-like syndrome with loose anagen hair
Tags
Green Green List (high evidence)
SMAD4
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hereditary Hemorrhagic Telangiectasia, Juvenile Polyposis
Tags
Green Green List (high evidence)
SMARCA4
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • predisposition to small cell ca
  • Ovary with hypercalcemia
Tags
Green Green List (high evidence)
SMARCB1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Atypical rhabdoid tumor predisposition
Tags
Green Green List (high evidence)
SOS1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Noonan syndrome 4 610733
Tags
Green Green List (high evidence)
STK11
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Peutz Jeghers syndrome
Tags
Green Green List (high evidence)
SUFU
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • SUFU associated Medulloblastoma
Tags
Green Green List (high evidence)
TERC
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Dyskeratosis congenita, autosomal dominant 1, 127550
Tags
Green Green List (high evidence)
TERT
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • {Dyskeratosis congenita, autosomal recessive 4}, 613989
  • {Dyskeratosis congenita, autosomal dominant 2}, 613989
Tags
Green Green List (high evidence)
TMEM127
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Familial Pheochromocytoma, adrenal
Tags
Green Green List (high evidence)
TP53
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Li Fraumeni Syndrome
Tags
Green Green List (high evidence)
TSC1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Tuberous sclerosis type 1
Tags
Green Green List (high evidence)
TSC2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Tuberous sclerosis type 2
Tags
Green Green List (high evidence)
VHL
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Familial Paraganglioma and Pheochromocytoma
  • VON HIPPEL-LINDAU (VHL) SYNDROME, 193300
Tags
Green Green List (high evidence)
WRAP53
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 3, 613988
Tags
Green Green List (high evidence)
WT1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Familial Wilms tumor
Tags
Green Green List (high evidence)
XPA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Xeroderma pigmentosum, group A, 278700
Tags
Green Green List (high evidence)
XPC
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Xeroderma pigmentosum, group C, 278720
Tags
Amber Amber List (moderate evidence)
ACD
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • 616553 ?Dyskeratosis congenita 6 and 7
Tags
Amber Amber List (moderate evidence)
AIP
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • Pituitary adenoma 1, multiple types 102200
Tags
Amber Amber List (moderate evidence)
BRAF
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Cardiofaciocutaneous syndrome 115150
  • Noonan syndrome 7 613706
  • LEOPARD syndrome 3 613707
Tags
Amber Amber List (moderate evidence)
CHEK2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Breast cancer
Tags
Amber Amber List (moderate evidence)
CTC1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Dyskeratosis congenita
  • Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita
  • Inherited Bone Marrow Failure Syndromes
  • Dyskeratosis Congenita, Recessive
  • 612199 Coats plus syndrome
Tags
Amber Amber List (moderate evidence)
DKC1
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 6, 616353
Tags
Amber Amber List (moderate evidence)
ERCC1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Xeroderma Pigmentosa
  • Cerebrooculofacioskeletal syndrome 4, 610758
Tags
Amber Amber List (moderate evidence)
EXT1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
  • Other
Phenotypes
  • Chondrosarcoma 215300
Tags
Amber Amber List (moderate evidence)
EXT2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
  • Other
Phenotypes
  • Exostoses, multiple, type 2
Tags
Amber Amber List (moderate evidence)
LZTR1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Noonan syndrome 10 616564
  • Schwannomatosis-2, susceptibility to 615670
Tags
Amber Amber List (moderate evidence)
MAP2K1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Cardiofaciocutaneous Syndrome
  • Cardio-Facio-Cutaneous syndrome
  • CFC syndrome
  • LEOPARD syndrome
  • Cardiofaciocutaneous syndrome 3
  • ?Noonan syndrome
Tags
Amber Amber List (moderate evidence)
MAP2K2
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Cardiofaciocutaneous syndrome 4 615280
Tags
Amber Amber List (moderate evidence)
PARN
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • 616353 Dyskeratosis congenita, autosomal recessive 6
  • 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4
Tags
Amber Amber List (moderate evidence)
PPP1CB
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Rasopathy with developmental delay, short stature and sparse slow-growing hair
  • Noonan syndrome-like disorder with loose anagen hair 2, 617506
Tags
Amber Amber List (moderate evidence)
RIT1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Noonan syndrome 8 615355
Tags
Amber Amber List (moderate evidence)
SLX4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Fanconi anemia, complementation group P, 613951
Tags
Amber Amber List (moderate evidence)
SOS2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Noonan syndrome 9 616559
Tags
Amber Amber List (moderate evidence)
TINF2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Dyskeratosis congenita, autosomal dominant 3, 613990
Tags
Red Red List (low evidence)
NOP10
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Dyskeratosis Congenita
Tags
Red Red List (low evidence)
PDGFRA
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Gastrointestinal stromal tumor
Tags
Red Red List (low evidence)
SPRED1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
Phenotypes
  • Legius syndrome 611431
Tags

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