Description
Paediatric congenital malformation-dysmorphism-tumour eligibility statement:

Paediatric congenital malformation-dysmorphism-tumour inclusion (30711)
- proband is affected with childhood neoplasia (diagnosed age <=16) AND 
- proband has significant congenital malformation OR  
- premorbid growth abnormality (>=3SD from mean) OR  
- FDR is affected with childhood malignancy (diagnosed age <= 16) OR 
 - significant facial dysmorphism (ascertained by clinical geneticist) OR  
- Proband (child <16) with bilateral tumours

Paediatric congenital malformation-dysmorphism-tumour exclusion criteria (30711)

Prior genetic testing guidance (30711)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Paediatric congenital malformation-dysmorphism-tumour prior genetic testing genes (30711)
Testing as below is strongly recommended PRIOR TO RECRUITMENT to allow appropriate management of families with readily detectable mutations in known disease genes:  
- any genetic testing for which patient is eligible by local guidance on account of personal/family history. 
- including for Wilms tumour – WT1 and 11p15 methylation studies; Adrenocortical carcinoma – TP53; Hepatoblastoma – 11p15 methylation studies; consideration of Fanconi breakage testing according to clinical presentation

Closing statement (30711)
These requirements will be kept under continual review during the main programme and may be subject to change.

8 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Eik Haraldsdottir (Genomics England)

    Group: other
    Workplace: other

  • Richard Scott (North Thames GMC/UCL)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Richard Scott (Genomics England Curator)

    Group: Other
    Workplace: Genomics England

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

66 Entities

50 reviewed, 52 green

List Entity Reviews Mode of inheritance Details
66 Entitiess
Green Green List (high evidence)
11p13 (WAGR syndrome) region Loss
ISCA-37401-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome
  • 194072
Tags
Green Green List (high evidence)
ALK
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
Phenotypes
  • bilateral neuroblastoma
  • {Neuroblastoma, susceptibility to, 3}
Tags
Green Green List (high evidence)
APC
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 175100
Tags
Green Green List (high evidence)
ATM
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 208900
Tags
Green Green List (high evidence)
BLM
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 210900
Tags
Green Green List (high evidence)
BRCA2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • {Breast-ovarian cancer, familial, 2}, 612555
  • Fanconi anemia, complementation group D1, 605724
  • Prostate cancer, 176807
  • {Breast cancer, male, susceptibility to}, 114480
  • Wilms tumor, 194070
  • {Medulloblastoma}, 155255
  • {Glioblastoma 3}, 613029
  • Pancreatic cancer, 613347
  • Fanconi Anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
BRIP1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • ?Breast cancer, early-onset, 114480
  • Fanconi anemia, complementation group J, 609054
  • Fanconi Anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
BUB1B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 257300
Tags
Green Green List (high evidence)
CBL
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 613563
Tags
Green Green List (high evidence)
CDC73
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 145001
Tags
Green Green List (high evidence)
CDKN1C
1 review
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Wilms Tumor
  • Beckwith-Wiedemann syndrome, 130650
  • IMAGE syndrome, 614732
  • Beckwith-Wiedemann Syndrome
  • Silver-Russell Syndrome
Tags
Green Green List (high evidence)
DICER1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 601200
Tags
Green Green List (high evidence)
DIS3L2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Perlman syndrome, 267000
Tags
Green Green List (high evidence)
ERCC4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Xeroderma pigmentosum, group F, 278760
  • XFE progeroid syndrome, 610965
  • Fanconi anemia, complementation group Q, 615272
  • Xeroderma pigmentosum, type F/Cockayne syndrome, 278760
Tags
Green Green List (high evidence)
EZH2
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Weaver syndrome, 277590
  • Weaver Syndrome
Tags
Green Green List (high evidence)
FANCA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group A, 227650
  • Fanconi Anemia
  • Fanconi Anemia, Complementation Group A
Tags
Green Green List (high evidence)
FANCB
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group B, 300514
  • Fanconi Anemia, X-Linked
  • Fanconi Anemia Type B
  • Fanconi Anemia, Complementation Group C
Tags
Green Green List (high evidence)
FANCC
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group C, 227645
  • Fanconi Anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
FANCD2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group D2, 227646
  • Fanconi Anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
FANCE
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group E, 600901
  • Fanconi Anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
FANCF
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group F, 603467
  • Fanconi Anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
FANCG
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group G, 614082
  • Fanconi Anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
FANCI
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group I, 609053
  • Fanconi Anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
FANCL
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group L, 614083
  • Fanconi Anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
GPC3
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Simpson-Golabi-Behmel syndrome, type 1, 312870
  • Wilms tumor, somatic, 194070
Tags
Green Green List (high evidence)
HRAS
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Costello syndrome, 218040
Tags
Green Green List (high evidence)
MLH1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 276300
Tags
Green Green List (high evidence)
MSH2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 276300
Tags
Green Green List (high evidence)
MSH6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 276300
Tags
Green Green List (high evidence)
NBN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 251260
Tags
Green Green List (high evidence)
NF1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Neurofibromatosis, type 1, 162200
  • Leukemia, juvenile myelomonocytic, 607785
  • Melanoma, desmoplastic neurotrophic (2)
  • Neurofibromatosis, familial spinal, 162210
  • Neurofibromatosis-Noonan syndrome, 601321
  • Watson syndrome, 193520
  • Neurofibromatosis, Type 1
  • Neurofibromatosis, Type I
Tags
Green Green List (high evidence)
NF2
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • loss of heterozygosity Neurofibromatosis, type 2, 101000
  • Meningioma, NF2-related, somatic, 607174
  • Schwannomatosis, 162091
  • Neurofibromatosis, Type 2
  • Neurofibromatosis, Type II
Tags
Green Green List (high evidence)
NSD1
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Sotos syndrome 1, 117550
  • Leukemia, acute myeloid, 601626 (1) Beckwith-Wiedemann syndrome, 130650
  • Sotos Syndrome
  • Weaver Syndrome
Tags
Green Green List (high evidence)
PALB2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group N, 610832
  • {Breast cancer, susceptibility to}, 114480
  • {Pancreatic cancer, susceptibility to, 3}, 613348
  • Fanconi Anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
PDGFRB
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Infantile myofibromatosis
  • Myofibromatosis, infantile, 1 228550
Tags
Green Green List (high evidence)
PHOX2B
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Other
Tags
Green Green List (high evidence)
PMS2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 276300
Tags
Green Green List (high evidence)
PTCH1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 109400
Tags
Green Green List (high evidence)
PTEN
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cowden syndrome 1, 158350
  • Lhermitte-Duclos syndrome, 158350
  • Bannayan-Riley-Ruvalcaba syndrome, 153480
  • {Meningioma}, 607174
  • {Glioma susceptibility 2}, 613028
  • Macrocephaly/autism syndrome, 605309
  • PTEN hamartoma tumor syndrome
  • VATER association with macrocephaly and ventriculomegaly, 76950
  • Prostate cancer, somatic}, 176807
  • Thyroid carcinoma, follicular, somatic, 188470
  • Malignant melanoma, somatic, 155600
  • Endometrial carcinoma, somatic, 608089
  • Squamous cell carcinoma, head and neck, somatic, 275355
  • VATER association with macrocephaly and ventriculomegaly, 276950
  • {Prostate cancer, somatic}, 176807
  • Cowden Syndrome
  • Cowden Disease
Tags
Green Green List (high evidence)
PTPN11
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 163950
Tags
Green Green List (high evidence)
RB1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
Phenotypes
  • Retinoblastoma
  • Retinoblastoma, trilateral
Tags
Green Green List (high evidence)
RECQL4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 268400
Tags
Green Green List (high evidence)
REST
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 616806
Tags
Green Green List (high evidence)
RET
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • MEN2B 162300
Tags
Green Green List (high evidence)
SLX4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group P, 613951
  • Fanconi Anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
SMARCA4
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 613325
Tags
Green Green List (high evidence)
SMARCB1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 609322
Tags
Green Green List (high evidence)
TP53
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
Phenotypes
  • Adrenocortical carcinoma
Tags
Green Green List (high evidence)
TRIM37
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 253250
Tags
Green Green List (high evidence)
TRIP13
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mosaic variegated aneuploidy syndrome 3 617598
Tags
Green Green List (high evidence)
TSC1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 191100
Tags
Green Green List (high evidence)
TSC2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 613254
Tags
Green Green List (high evidence)
WT1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Wilms tumor, type 1, 194070
  • Denys-Drash syndrome, 194080
  • Nephrotic syndrome, type 4, 256370
  • Frasier syndrome, 136680
  • Meacham syndrome, 608978
  • Mesothelioma, somatic, 156240
  • Wagner Syndrome
  • Wilms Tumor
  • Wilms Tumor 1
  • Denys-Drash Syndrome
  • Wilms tumour
Tags
Amber Amber List (moderate evidence)
RAD51C
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group O, 613390
  • {Breast-ovarian cancer, familial, susceptibility to, 3}, 613399
  • Fanconi Anemia
  • Fanconi Anaemia
Tags
  • watchlist
Red Red List (low evidence)
AKT1
1 review
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • IGH Breast cancer, somatic, 114480
  • Colorectal cancer, somatic, 114500
  • Ovarian cancer, somatic, 167000
  • {Schizophrenia, susceptibility to}, 181500 (2)
  • Proteus syndrome, somatic, 176920
  • Cowden syndrome 6, 615109
Tags
Red Red List (low evidence)
FANCM
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group M, 614087
  • Fanconi Anemia
  • Fanconi Anaemia
Tags
Red Red List (low evidence)
H19
3 reviews
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • UKGTN
Phenotypes
  • Beckwith-Wiedemann Syndrome
  • Russell-Silver Syndrome
  • Silver-Russell Syndrome
Tags
  • locus-type-rna-long-non-coding
Red Red List (low evidence)
IGF2
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Beckwith-Wiedemann Syndrome
Tags
Red Red List (low evidence)
KCNQ1OT1
4 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • UKGTN
Phenotypes
  • Beckwith-Wiedemann Syndrome
Tags
  • locus-type-rna-long-non-coding
Red Red List (low evidence)
KLLN
1 review
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cowden syndrome 4, 615107
Tags
Red Red List (low evidence)
NFIX
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Marshall-Smith syndrome, 602535
  • Sotos syndrome 2, 614753
Tags
Red Red List (low evidence)
NOTCH3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Infantile myofibromatosis
Tags
Red Red List (low evidence)
PAX6
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • ?Morning glory disc anomaly, 120430
  • Aniridia, 106210
  • Cataract with late-onset corneal dystrohpy, 106210
  • Coloboma of optic nerve, 120430
  • Coloboma, ocular, 120200
  • Foveal hypoplasia 1, 136520
  • Gillespie syndrome, 206700
  • Keratitis, 148190
  • Optic nerve hypoplasia, 165550
  • Peters anomaly, 604229
  • Wagner Syndrome
  • Aniridia
  • PAX6-related Disorders
  • Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Tags
Red Red List (low evidence)
PIK3CA
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
Phenotypes
  • 1 report of several families in PTEN-negative Cowden
Tags
Red Red List (low evidence)
SDHB
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Paragangliomas 4, 115310
  • Pheochromocytoma, 171300
  • Paraganglioma and gastric stromal sarcoma, 606864
  • Cowden syndrome 2, 612359
  • Gastrointestinal stromal tumor, 606764
Tags
Red Red List (low evidence)
SDHD
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Paragangliomas 1, with or without deafness, 168000
  • Pheochromocytoma, 171300
  • Carcinoid tumors, intestinal, 114900
  • Merkel cell carcinoma, somatic
  • Paraganglioma and gastric stromal sarcoma, 606864
  • Cowden syndrome 3, 615106
Tags

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