Inherited phaeochromocytoma and paraganglioma
Gene: NF1EnsemblGeneIds (GRCh38): ENSG00000196712
EnsemblGeneIds (GRCh37): ENSG00000196712
OMIM: 613113, Gene2Phenotype
NF1 is in 32 panels
4 reviews
Louise IZATT (GSTT Clinical Genetics Service)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Katie Snape (South London GMC)
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)
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 testingCreated: 30 Sep 2015, 12:21 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
NF1
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- NF1
- OMIM
- 613113
- Clinvar variants
- Variants in NF1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Inherited predisposition to GIST
- Familial pulmonary fibrosis
- Segmental or atypical neurofibromatosis type 1 testing
- Skeletal dysplasia
- Cerebral vascular malformations
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Paediatric or syndromic cardiomyopathy
- Pigmentary skin disorders
- RASopathies
- Mosaic skin disorders - deep sequencing
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Fetal anomalies
- DDG2P
- Childhood solid tumours cancer susceptibility
- Inherited phaeochromocytoma and paraganglioma
- Haematological malignancies cancer susceptibility
- Monogenic hearing loss
- Multiple monogenic benign skin tumours
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Sarcoma cancer susceptibility
- Primary lymphoedema
- Cytopenias and congenital anaemias
- Monogenic short stature
- Neurofibromatosis Type 1
- Hydrocephalus
- Childhood solid tumours
- Adult solid tumours for rare disease
- Sarcoma susceptibility
- Intellectual disability
- Adult solid tumours cancer susceptibility
- Neurofibromatosis type 1 (GMS)
History Filter Activity
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen Thomas (Genomics England Curator)Publications for NF1 were set to 22429592; 16735498; UKGTN
Set Phenotypes
Ellen Thomas (Genomics England Curator)Phenotypes for NF1 were set to NF1
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for NF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()NF1 was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: UKGTN