PanelApp
  1. Panels
  2. Rasopathy
Description
This panel was developed and is maintained by VCGS.

This panel has been compared against the ClinGen Rasopathy Working Group gene-disease validity assessments (PMID: 30311384) and against the Genomics England PanelApp Rasopathies panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England.
Panel Activity

8 reviewers

  • Sebastian Lunke (Victorian Clinical Genetics Services)

  • Alison Yeung (Victorian Clinical Genetics Services)

  • Chirag Patel (Genetic Health Queensland)

  • Achchuthan Shanmugasundram (Genomics England)

  • Michelle Torres (Victorian Clinical Genetics Services)

  • Dean Phelan (Victorian Clinical Genetics Services)

  • Chern Lim (Victorian Clinical Genetics Services)

  • Zornitza Stark (Victorian Clinical Genetics Services)

33 Entities

32 reviewed, 26 green

List Entity Reviews Mode of inheritance Details
33 Entitiess
Green Green List (high evidence)
BRAF
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Noonan syndrome 7, MIM# 613706
  • Cardiofaciocutaneous syndrome, MIM# 115150
Tags
Green Green List (high evidence)
CBL
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563
Tags
Green Green List (high evidence)
ERF
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Noonan syndrome-like, MONDO:0018997, with or without craniosynostosis, ERF-related
Tags
Green Green List (high evidence)
HRAS
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Costello syndrome, MIM# 218040
Tags
Green Green List (high evidence)
Chromosome 17q11.2 deletion syndrome, NF1 deletion syndrome
ISCA-37431-Loss
Region
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Chromosome 17q11.2 deletion syndrome, MIM#613675
  • NF1 deletion syndrome
Tags
Green Green List (high evidence)
KRAS
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Noonan syndrome 3, MIM# 609942
  • Cardiofaciocutaneous syndrome 2, MIM# 615278
Tags
Green Green List (high evidence)
LZTR1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Noonan syndrome 10
  • Noonan syndrome 2
Tags
Green Green List (high evidence)
MAP2K1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiofaciocutaneous syndrome 3, MIM# 615279
Tags
Green Green List (high evidence)
MAP2K2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiofaciocutaneous syndrome 4, MIM# 615280
Tags
Green Green List (high evidence)
MAP4K4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • RASopathy, MONDO:0021060, MAP4K4-related
Tags
Green Green List (high evidence)
MAPK1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Noonan syndrome 13, MIM#619087
  • Global developmental delay
  • Intellectual disability
  • Behavioral abnormality
  • Growth delay
  • Abnormality of the face
  • Abnormality of the neck
  • Abnormality of the cardiovascular system
  • Abnormality of the skin
Tags
Green Green List (high evidence)
MRAS
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Noonan syndrome 11, MIM#618499
Tags
Green Green List (high evidence)
NF1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurofibromatosis, type 1, MIM# 162200
  • Neurofibromatosis-Noonan syndrome, MIM# 601321
Tags
Green Green List (high evidence)
NRAS
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Noonan syndrome 6, MIM# 613224
Tags
Green Green List (high evidence)
PPP1CB
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Noonan syndrome-like disorder with loose anagen hair 2
  • OMIM # 617506
Tags
Green Green List (high evidence)
PTPN11
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • LEOPARD syndrome 1, 151100 AD (for reporting use Noonan syndrome with multiple lentigines)
  • Noonan syndrome 1, 163950 AD
Tags
Green Green List (high evidence)
RAF1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Noonan syndrome 5, MIM# 611553
Tags
Green Green List (high evidence)
RIT1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Noonan syndrome 8, MIM# 615355
Tags
Green Green List (high evidence)
RRAS2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Noonan syndrome 12 OMIM #618624
Tags
Green Green List (high evidence)
RREB1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Rasopathy, MONDO:0021060, RREB1-related
Tags
  • SV/CNV
Green Green List (high evidence)
SHOC2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Noonan syndrome-like with loose anagen hair 1, MIM# 607721
Tags
Green Green List (high evidence)
SOS1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Noonan syndrome 4, MIM# 610733
Tags
Green Green List (high evidence)
SOS2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Noonan syndrome 9, MIM# 616559
Tags
Green Green List (high evidence)
SPRED1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Legius syndrome, MIM# 611431
Tags
Green Green List (high evidence)
SPRED2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Noonan syndrome 14, MIM# 619745
Tags
Green Green List (high evidence)
TAB2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like
  • Congenital heart defects, nonsyndromic, 2 (MIM#614980)
Tags
Amber Amber List (moderate evidence)
RASA2
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Noonan syndrome MONDO:0018997, RASA2-related
Tags
Amber Amber List (moderate evidence)
RRAS
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Noonan syndrome
Tags
Amber Amber List (moderate evidence)
YWHAZ
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, YWHAZ-related
Tags
Red Red List (low evidence)
A2ML1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Noonan syndrome
Tags
  • disputed
Red Red List (low evidence)
KAT6B
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • RASopathy, MONDO:0021060
Tags
  • disputed
Red Red List (low evidence)
NSUN2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • RASopathy, MONDO:0021060
Tags
  • disputed
Red Red List (low evidence)
RASA1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Noonan syndrome, MONDO:0018997
Tags
  • disputed

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