Inherited phaeochromocytoma and paraganglioma

Gene: NF1

Green List (high evidence)

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

4 reviews

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Katie Snape (South London GMC)

Green List (high evidence)

Ellen Thomas (Genomics England Curator)

Comment on list classification: Well characterised disease gene with phenotypic overlap with this disorder.
Created: 7 Feb 2016, 8:53 p.m.

Treena Cranston (Oxford)

Green List (high evidence)

PCC is rare, but can be seen in association with NF1, not generally seen as isolated PCC so currently not included in standard isolated PCC/PGL testing
Created: 30 Sep 2015, 12:21 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
NF1

Publications

History Filter Activity

7 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

7 Feb 2016, Gel status: 4

Set publications

Ellen Thomas (Genomics England Curator)

Publications for NF1 were set to 22429592; 16735498; UKGTN

7 Feb 2016, Gel status: 4

Set Phenotypes

Ellen Thomas (Genomics England Curator)

Phenotypes for NF1 were set to NF1

7 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

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

7 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

NF1 was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: UKGTN