Primary lymphoedema

Gene: NF1

Green List (high evidence)

NF1 (neurofibromin 1)
EnsemblGeneIds (GRCh38): ENSG00000196712
EnsemblGeneIds (GRCh37): ENSG00000196712
OMIM: 613113, Gene2Phenotype
NF1 is in 30 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London).
Created: 27 Jun 2019, 3:46 p.m. | Last Modified: 27 Jun 2019, 3:46 p.m.
Panel Version: 1.63

Sahar Mansour (St George's Hospital, London)

Green List (high evidence)

Green gene from RASopathies (Version 1.55)(https://panelapp.genomicsengland.co.uk/panels/48/).
Created: 27 Jun 2019, 3:36 p.m. | Last Modified: 27 Jun 2019, 3:36 p.m.
Panel Version: 1.45

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Neurofibromatosis-Noonan syndrome 601321; Neurofibromatosis, type 1 162200

Publications

History Filter Activity

27 Jun 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: nf1 has been classified as Green List (High Evidence).

27 Jun 2019, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: NF1 were set to

27 Jun 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: nf1 has been classified as Green List (High Evidence).

27 Jun 2019, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: NF1 was added gene: NF1 was added to Primary lymphoedema. Sources: Expert Review Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NF1 were set to Neurofibromatosis-Noonan syndrome 601321; Neurofibromatosis, type 1 162200