RASopathies

Gene: NF1

Green List (high evidence)

NF1 (neurofibromin 1)
EnsemblGeneIds (GRCh38): ENSG00000196712
EnsemblGeneIds (GRCh37): ENSG00000196712
OMIM: 613113, Gene2Phenotype
NF1 is in 32 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment 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.

Helen Savage (Congenica Ltd)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurofibromatosis syndrome 1

History Filter Activity

13 Jun 2019, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: NF1 were set to PMID: 16380919; 19845691; 12707950

13 Jun 2019, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: NF1 were changed from Neurofibromatosis-Noonan syndrome 601321 to Neurofibromatosis-Noonan syndrome 601321; Neurofibromatosis, type 1 162200

13 Jun 2019, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: NF1 were changed from Neurofibromatosis-Noonan Syndrome; Neurofibromatosis Noonan syndrome; Noonan syndrome; Neurofibromatosis syndrome 1 to Neurofibromatosis-Noonan syndrome 601321

8 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Feb 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

5 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Feb 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for NF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

5 Feb 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

5 Feb 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for NF1 were set to Neurofibromatosis-Noonan Syndrome; Neurofibromatosis Noonan syndrome; Noonan syndrome; Neurofibromatosis syndrome 1

5 Feb 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for NF1 were set to Neurofibromatosis-Noonan Syndrome; Neurofibromatosis Noonan syndrome; Noonan syndrome; Noonan syndrome plus other features

5 Feb 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for NF1 were set to PMID: 16380919; 19845691; 12707950

2 Feb 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene NF1 were set to Neurofibromatosis-Noonan Syndrome ;Neurofibromatosis Noonan syndrome ;Noonan syndrome;Noonan syndrome plus other features

2 Feb 2016, Gel status: 2

Upload gene information

Ellen McDonagh (Genomics England Curator)

NF1 was added to RASopathiespanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

2 Feb 2016, Gel status: 3

clearsources

Ellen McDonagh (Genomics England Curator)

NF1All sources for gene: NF1 were removed

18 Nov 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

NF1 was added to RASopathiespanel. Source: Illumina TruGenome Clinical Sequencing Services

18 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

NF1 was created by ellenmcdonagh

18 Nov 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

NF1 was added to RASopathiespanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen