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Cardiomyopathies - including childhood onset

Gene: NF1

Green List (high evidence)

NF1 (neurofibromin 1)
EnsemblGeneIds (GRCh38): ENSG00000196712
EnsemblGeneIds (GRCh37): ENSG00000196712
OMIM: 613113, Gene2Phenotype
NF1 is in 31 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16

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

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to NF1.

4 Sep 2019, Gel status: 3

Added New Source, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Source Expert List was added to NF1. Added phenotypes Neurofibromatosis-Noonan syndrome 601321; Neurofibromatosis, type 1 162200 for gene: NF1 Publications for gene NF1 were changed from 12707950; 19845691; PMID: 16380919 to 12707950; 16380919; 19845691

4 Sep 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: NF1 was added gene: NF1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NF1 were set to 12707950; 19845691; PMID: 16380919 Phenotypes for gene: NF1 were set to Neurofibromatosis syndrome 1; Neurofibromatosis Noonan syndrome; Noonan syndrome; Neurofibromatosis-Noonan Syndrome