Paediatric or syndromic cardiomyopathy
Gene: NF1
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 11:32 a.m. | Last Modified: 8 Mar 2022, 11:32 a.m.
Panel Version: 1.67
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
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.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurofibromatosis syndrome 1
Source Expert Review Amber was added to NF1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Source NHS GMS was added to NF1.
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
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