RASopathies
Gene: NF1Comment on list classification: Is a confirmed DD gene for neurofibromatosis-noonan syndrome and neurofibromatosis type 1. Comment from Reviewer: Shares overlapping features with Noonan syndrome.
Helen Savage (Congenica Ltd), Jan. 27, 2016, 3:18 p.m.Created: 5 Feb 2016, 12:53 p.m.
Comment on mode of inheritance: Confirmed on G2P and OMIM, and not on imprinted gene list.Created: 5 Feb 2016, 9:14 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurofibromatosis syndrome 1
Publications for gene: NF1 were set to PMID: 16380919; 19845691; 12707950
Phenotypes for gene: NF1 were changed from Neurofibromatosis-Noonan syndrome 601321 to Neurofibromatosis-Noonan syndrome 601321; Neurofibromatosis, type 1 162200
Phenotypes for gene: NF1 were changed from Neurofibromatosis-Noonan Syndrome; Neurofibromatosis Noonan syndrome; Noonan syndrome; Neurofibromatosis syndrome 1 to Neurofibromatosis-Noonan syndrome 601321
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for NF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for NF1 were set to Neurofibromatosis-Noonan Syndrome; Neurofibromatosis Noonan syndrome; Noonan syndrome; Neurofibromatosis syndrome 1
Phenotypes for NF1 were set to Neurofibromatosis-Noonan Syndrome; Neurofibromatosis Noonan syndrome; Noonan syndrome; Noonan syndrome plus other features
Publications for NF1 were set to PMID: 16380919; 19845691; 12707950
Phenotypes for gene NF1 were set to Neurofibromatosis-Noonan Syndrome ;Neurofibromatosis Noonan syndrome ;Noonan syndrome;Noonan syndrome plus other features
NF1 was added to RASopathiespanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
NF1All sources for gene: NF1 were removed
NF1 was added to RASopathiespanel. Source: Illumina TruGenome Clinical Sequencing Services
NF1 was created by ellenmcdonagh
NF1 was added to RASopathiespanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen