Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.13
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Emory Genetics Laboratory
Phenotypes
- High Risk Breast Cancer
- Breast and Ovarian Cancer
|
Version 1.1
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- harmartoma, glioma, prostate, endometrial
- Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome
|
Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.19
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Expert list
Phenotypes
- PTEN hamartoma tumor syndrome
- Bannayan-Riley-Ruvalcaba syndrome 153480
|
Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.13
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- Other
- Radboud University Medical Center, Nijmegen
Phenotypes
- VATER association with macrocephaly and ventriculomegaly,276950
- VACTERL ASSOCIATION WITH HYDROCEPHALUS
- VACTERL-H
|
Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.5
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
Phenotypes
- Cowden syndrome 1 158350
- Lhermitte-Duclos syndrome 158350
|
Level 3: Skin
Level 2: Tumour syndromes
Version 1.6
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Eligibility statement prior genetic testing
- Expert list
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
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, 276950
- {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
- Cowden Syndrome
- Cowden Disease
|
Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.60
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- Emory Genetics Laboratory
- Expert list
Phenotypes
- PTEN hamartoma tumor syndrome
- Bannayan-Riley-Ruvalcaba syndrome 153480
|
Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.0
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Expert list
Phenotypes
|
Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.0
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Expert list
Phenotypes
|
Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.0
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Expert list
Phenotypes
|
Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.1
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Expert list
Phenotypes
|
Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.0
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Cowden Syndrome
- PTEN hamartoma tumor syndrome
- Breast cancer
- Thyroid cancer
- Endometrial cancer
|
Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.9
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Other
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
|
Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.22
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Expert list
Phenotypes
|
Level 2: Viral research
Version 1.77
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- IUIS Classification February 2018
- IUIS Classification December 2019
- London North GLH
- NHS GMS
- North West GLH
- IUIS Classification December 2019
- North West GLH
- London North GLH
- NHS GMS
- IUIS Classification February 2018
Phenotypes
- Recurrent infections, Lymphoproliferation, Autoimmunity
- Lymphoproliferation, Autoimmunity
- developmental delay
- Predominantly Antibody Deficiencies
|
Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.36
Signed off v.2.2
on 2 Mar 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Red
- UKGTN
Phenotypes
- Bannayan-Riley-Ruvalcaba Syndrome
|
Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.12
|
review
|
Not set
|
Sources
- Expert Review Amber
- Expert Review
Phenotypes
- Bannayan-Riley-Ruvalcaba syndrome 153480
|
Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.29
|
review
|
Not set
|
Sources
- Radboud University Medical Center, Nijmegen
Phenotypes
- Cowden syndrome 1, 158350Lhermitte-Duclos syndrome, 158350Bannayan-Riley-Ruvalcaba syndrome, 153480{Meningioma}, 607174{Glioma susceptibility 2}, 613028Macrocephaly/autism syndrome, 605309PTEN hamartoma tumor syndromeVATER association with macrocephaly and ventriculomegaly, 276950{Prostate cancer, somatic}, 176807Thyroid carcinoma, follicular, somatic, 188470Malignant melanoma, somatic, 155600Endometrial carcinoma, somatic, 608089Squamous cell carcinoma, head and neck, somatic, 275355
|
Version 2.99
Signed off v.2.3
on 2 Mar 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- Macrocephaly/autism syndrome, OMIM:605309
|
Version 2.10
Signed off v.2.1
on 24 Feb 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Other
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert Review
Phenotypes
- Bannayan-Riley-Ruvalcaba syndrome, 153480
- BRRS
- Bannayan-Riley-Ruvalcaba syndrome,153480
- PHTS
- PTEN Hamartoma Tumor Syndrome
- Macrocephaly and Overgrowth Syndromes
- megalencephaly
- macrocephaly
- Bannayan Riley Ruvalcalba Syndrome
- Bannayan-Riley-Ruvalcaba Syndrome
- Cowden syndrome
- Proteus-like syndrome
- hemihypertrophy
|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.86
|
review
|
Not set
|
Sources
- Emory Genetics Laboratory
Phenotypes
|
Version 1.38
Signed off v.1.12
on 2 Mar 2020
Component of the following Super Panels:
White matter disorders - childhood onset
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- Cowden syndrome 1, MIM# 158350
|
Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 2.20
Signed off v.2.2
on 4 Mar 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Emory Genetics Laboratory
Phenotypes
- High Risk Breast Cancer
- Breast and Ovarian Cancer
|
Level 3: GI tract
Level 2: Tumour syndromes
Version 1.18
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert List
- Expert Review
- Expert Review Green
- Emory Genetics Laboratory
Phenotypes
- PTEN hamartoma tumor syndrome
- Bannayan-Riley-Ruvalcaba syndrome 153480 AD
- Cowden syndrome 1 158350
|
Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 2.17
Signed off v.2.5
on 4 Mar 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert List
- Expert Review Green
- Expert list
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
Phenotypes
- {Glioma susceptibility 2}, 613028
- Macrocephaly/autism syndrome, 605309
- VATER association with macrocephaly and ventriculomegaly, 76950
- {Prostate cancer, somatic}, 176807
- {Meningioma}, 607174
- Squamous cell carcinoma, head and neck, somatic, 275355
- Prostate cancer, somatic}, 176807
- Cowden Disease
- Bannayan-Riley-Ruvalcaba syndrome, 153480
- Malignant melanoma, somatic, 155600
- Cowden syndrome 1, 158350
- Endometrial carcinoma, somatic, 608089
- Cowden Syndrome
- Thyroid carcinoma, follicular, somatic, 188470
- Cowden syndrome
- Lhermitte-Duclos syndrome, 158350
- PTEN hamartoma tumor syndrome
- VATER association with macrocephaly and ventriculomegaly, 276950
|
Version 1.21
Signed off v.1.2
on 4 Mar 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Amber
- Expert List
- UKGTN
Phenotypes
- Renal cell carcinoma (disease), MONDO:0005086
|
Version 1.24
Signed off v.1.2
on 4 Mar 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- NHS GMS
- Expert List
Phenotypes
- Cowden syndrome 1, OMIM:158350
- Lhermitte-Duclos syndrome, OMIM:158350
- Cowden syndrome 1, MONDO:0008021
|
Version 1.10
Signed off v.1.4
on 15 Oct 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Bannayan-Riley-Ruvalcaba syndrome
- COWDEN SYNDROME 1
- Melanoma
- Cowden syndrome
- CWS1
- Epidermal naevi
|
Version 1.8
Signed off v.1.6
on 15 Oct 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- NHS GMS
- Yorkshire and North East GLH
|
Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.9
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Red
- Emory Genetics Laboratory
Phenotypes
|
Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.6
|
review
|
Not set
|
Sources
- Expert Review Red
- Emory Genetics Laboratory
|
Version 1.22
Signed off v.1.3
on 15 Oct 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- Expert list
Tags
- Q2_21_phenotype
- Q2_21_rating
- Q2_21_NHS_review
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.44
Signed off v.2.2
on 25 Feb 2020
Component of the following Super Panels:
Cerebral malformations
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- Cowden syndrome 1 158350
- Lhermitte-Duclos syndrome 158350
- Macrocephaly/autism syndrome 605309
|
Version 2.413
Signed off v.2.1
on 24 Feb 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- IUIS Classification December 2019
- North West GLH
- London North GLH
- NHS GMS
- Expert Review Amber
- IUIS Classification February 2018
Phenotypes
- Recurrent infections, Lymphoproliferation, Autoimmunity
- developmental delay
- Predominantly Antibody Deficiencies
- Lymphoproliferation, Autoimmunity
|
Version 0.22
|
review
|
Not set
|
Sources
- Expert Review Green
- SFARI
Phenotypes
- ID, ADHD, EPS, DD/NDD, ASD
- Cowden syndrome, Macrocephaly/autism syndrome, PTEN hamartoma tumor syndrome
|
Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.84
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- BRIDGE consortium (NIHRBR-RD)
Phenotypes
- Myelodysplastic syndrome (MDS), Adult
- Myelodysplastic syndrome (MDS), Paediatric
- Acute myeloid leukaemia (AML)
|
Version 1.5
Signed off v.1.3
on 15 Oct 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Bannayan-Riley-Ruvalcaba syndrome
- Cowden syndrome
- Epidermal naevi
- Melanoma
|
Version 1.47
Signed off v.1.3
on 15 Oct 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- Other
Phenotypes
- Cowden syndrome 1, OMIM:158350
- capillary venous malformations
|
Version 1.12
Signed off v.1.3
on 15 Oct 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Removed
- London North GLH
- NHS GMS
Phenotypes
- Epidermal naevi
- Melanoma
- Cowden syndrome
- Bannayan-Riley-Ruvalcaba syndrome
Tags
|
Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.14
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Expert list
Phenotypes
|
Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.9
Signed off v.2.2
on 18 Feb 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Green
- Expert list
Phenotypes
|
Level 3: Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Level 2: Growth disorders
Version 1.114
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Other
Phenotypes
- Overgrowth with Intellectual disability
- Human overgrowth syndrome type
|
Version 2.174
Signed off v.2.31
on 8 Oct 2020
|
review
|
Unknown
|
Sources
Phenotypes
|
Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.6
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
- VACTERL ASSOCIATION WITH HYDROCEPHALUS 276950
|
Version 1.641
Signed off v.1.92
on 21 Aug 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- MACROCEPHALY/AUTISM SYNDROME
- BANNAYAN-ZONANA SYNDROME
- PROTEUS SYNDROME
- VACTERL ASSOCIATION WITH HYDROCEPHALUS
- COWDEN DISEASE
- LHERMITTE-DUCLOS DISEASE
Tags
|
Version 2.25
Signed off v.2.2
on 13 Feb 2020
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- BANNAYAN-ZONANA SYNDROME 153480
- COWDEN DISEASE 158350
- MACROCEPHALY/AUTISM SYNDROME 605309
- VACTERL ASSOCIATION WITH HYDROCEPHALUS 276950
- PROTEUS SYNDROME 176920
- LHERMITTE-DUCLOS DISEASE 158350
Tags
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.384
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Amber
- NHS GMS
- London North GLH
Phenotypes
- Cowden syndrome 1, 158350
- multifocal demyelinating motor neuropathy, macrocephaly, autism spectrum disorder and skin hamartomas
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.323
Signed off v.2.2
on 13 Feb 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Red
- Wessex and West Midlands GLH
- NHS GMS
- Victorian Clinical Genetics Services
Phenotypes
- Cowden syndrome 1 158350
- Lhermitte-Duclos syndrome
- BANNAYAN-RILEY-RUVALCABA SYNDROME
Tags
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1018
Signed off v.3.2
on 13 Feb 2020
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Cowden syndrome 1, 158350Lhermitte-Duclos syndrome, 158350Bannayan-Riley-Ruvalcaba syndrome, 153480{Meningioma}, 607174{Glioma susceptibility 2}, 613028Macrocephaly/autism syndrome, 605309PTEN hamartoma tumor syndromeVATER association with macrocephaly and ventriculomegaly, 276950{Prostate cancer, somatic}, 176807Thyroid carcinoma, follicular, somatic, 188470Malignant melanoma, somatic, 155600Endometrial carcinoma, somatic, 608089Squamous cell carcinoma, head and neck, somatic, 275355
- PROTEUS SYNDROME
|
Version 1.113
Signed off v.1.14
on 15 Oct 2020
|
review
|
Not set
|
Sources
- NHS GMS
- South West GLH
- Expert Review Red
Phenotypes
- Cowden syndrome 1, 158350
- Macrocephaly/autism syndrome, 605309
- Lhermitte-Duclos syndrome, 158350
- VATER association with macrocephaly and ventriculomegaly, 276950
- Dystonia
|
Version 1.69
Signed off v.1.2
on 18 Feb 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Amber
- Expert list
Phenotypes
- Leiomyosarcoma, MONDO:0005058
|
Version 1.15
Signed off v.1.4
on 4 Mar 2020
Component of the following Super Panels:
Cerebral malformations
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- Cowden syndrome 1, OMIM:158350
- Lhermitte-Duclos syndrome, OMIM:158350
- Macrocephaly/autism syndrome, OMIM:605309
|
Version 1.25
Signed off v.1.2
on 27 Feb 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Amber
- London North GLH
- NHS GMS
- NHS GMS
- London North GLH
Phenotypes
- Cowden syndrome 1, 158350
- multifocal demyelinating motor neuropathy, macrocephaly, autism spectrum disorder and skin hamartomas
|
Version 1.90
Signed off v.1.58
on 6 Oct 2020
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Lhermitte-Duclos syndrome, 158350
- Cowden syndrome 1, 158350
- Macrocephaly/autism syndrome, 605309
- VATER association with macrocephaly and ventriculomegaly, 276950
|
Version 1.75
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Macrocephaly/autism syndrome, 605309
- Cowden syndrome 1, 158350
- Lhermitte-Duclos syndrome, 158350
|