Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.58
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Other
Phenotypes
- A restricted spectrum of NRAS mutations causes Noonan syndrome. (Nat Genet. 42: 27-29, 2010.)
|
Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.64
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Eligibility statement prior genetic testing
- Expert Review Green
Phenotypes
- Noonan syndrome
- Noonan syndrome 6
- Cardio-Facio-cutanenous syndrome
- CFC Syndrome
|
Level 2: Viral research
Version 1.141
|
review
|
Other
|
Sources
- Expert Review Amber
- London North GLH
- GOSH PID v.8.0
- NHS GMS
- GRID V2.0
- North West GLH
- ESID Registry 20171117
- NHS GMS
- North West GLH
- London North GLH
- Expert Review Amber
- ESID Registry 20171117
- GRID V2.0
- GOSH PID v.8.0
Phenotypes
- Ras associated lymphoproliferative disease (RALD)
- Autoimmune lymphoproliferative syndrome type IV
- RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic 614470
|
Version 4.4
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- NHS GMS
- Expert Review Red
- Literature
Phenotypes
- Neurocutaneous melanosis, somatic
|
Version 3.16
Latest signed off version: v3.3
(22 Mar 2023)
|
review
|
Not set
|
Sources
Phenotypes
- Hemimegalencephaly
- Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200
|
Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 4.15
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
- Cardio-Facio-cutanenous syndrome
- Noonan syndrome 6 613224
- CFC Syndrome
|
Version 3.10
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Congenital melanocytic naevus syndrome
- Melanocytic naevi
- NOONAN SYNDROME 6
- Noonan syndrome
- NS6
|
Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 4.6
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Sudden unexplained death or survivors of a cardiac event
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- South West GLH
- Expert list
Phenotypes
|
Version 4.195
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
Other - please specifiy in evaluation comments
|
Sources
- NHS GMS
- North West GLH
- London North GLH
- Expert Review Amber
- ESID Registry 20171117
- GRID V2.0
- GOSH PID v.8.0
Phenotypes
- ?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic 614470
- Autoimmune lymphoproliferative syndrome type IV
- Ras associated lymphoproliferative disease (RALD)
Tags
|
Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- BRIDGE consortium (NIHRBR-RD)
Phenotypes
- Myelodysplastic syndrome (MDS), Paediatric
|
Version 2.41
Latest signed off version: v2.0
(30 Nov 2022)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Congenital melanocytic naevus syndrome
- Melanocytic naevi
- Noonan syndrome
|
Version 2.4
Latest signed off version: v2.0
(30 Nov 2022)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Removed
- London North GLH
- NHS GMS
Phenotypes
- Melanocytic naevi
- Noonan syndrome
- Congenital melanocytic naevus syndrome
Tags
|
Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.26
|
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 2.29
Latest signed off version: v2.2
(18 Feb 2020)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Cardio-Facio-cutanenous syndrome
- Noonan syndrome 6 613224
- CFC Syndrome
|
Version 3.140
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
|
Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- NOONAN SYNDROME TYPE 6 613224
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.476
|
review
|
Not set
|
Sources
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
Phenotypes
|
Version 3.8
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- Noonan syndrome
- CFC Syndrome
- A restricted spectrum of NRAS mutations causes Noonan syndrome. (Nat Genet. 42: 27-29, 2010.)
- Noonan syndrome 6
- Cardio-Facio-cutanenous syndrome
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.181
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
Not set
|
Sources
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review Red
- Victorian Clinical Genetics Services
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.499
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Autoimmune lymphoproliferative syndrome type IV, 614470Noonan syndrome 6, 613224Epidermal nevus, somatic, 162900Thyroid carcinoma, follicular, somatic, 188470Colorectal cancer, somatic, 114500
- NOONAN SYNDROME TYPE 6
|
Level 3: RASopathies
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.78
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- UKGTN
- Eligibility statement prior genetic testing
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
Phenotypes
- Noonan syndrome 6 613224
- Cardio-Facio-cutanenous syndrome
|
Level 3: Lymphatic Disorders
Level 2: Cardiovascular disorders
Version 3.10
Latest signed off version: v3.0
(30 Nov 2022)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Expert Review
Phenotypes
|
Version 2.9
Latest signed off version: v2.6
(22 Mar 2023)
Component of the following Super Panels:
Cerebral malformation
|
review
|
Not set
|
Sources
Phenotypes
- Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200
- Hemimegalencephaly
|
Version 3.43
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert List
- South West GLH
- London South GLH
- Expert Review Green
Phenotypes
- CFC Syndrome
- Noonan syndrome
- Noonan syndrome 6
- Noonan syndrome 6 613224
- syndromic HCM
- Cardio-Facio-cutanenous syndrome
|
Version 3.83
Latest signed off version: v3.24
(15 May 2023)
|
review
|
Not set
|
Sources
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
- NHS GMS
- South West GLH
Phenotypes
|
Version 1.182
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Noonan syndrome 6, 613224
|