Inherited phaeochromocytoma and paraganglioma
Gene: NF1EnsemblGeneIds (GRCh38): ENSG00000196712
EnsemblGeneIds (GRCh37): ENSG00000196712
OMIM: 613113, Gene2Phenotype
NF1 is in 33 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
-
- Skeletal dysplasia
- Haematological malignancies cancer susceptibility
- Intellectual disability
- Familial pulmonary fibrosis
- DDG2P
- Cerebral vascular malformations
- Segmental or atypical neurofibromatosis type 1 testing
- Mosaic skin disorders - deep sequencing
- Pigmentary skin disorders
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- RASopathies
- Inherited predisposition to GIST
- Childhood solid tumours cancer susceptibility
- Primary lymphoedema
- Multiple monogenic benign skin tumours
- Inherited phaeochromocytoma and paraganglioma
- Monogenic hearing loss
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Sarcoma cancer susceptibility
- Cytopenias and congenital anaemias
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Neurofibromatosis Type 1
- Hydrocephalus
- Adult solid tumours for rare disease
- Sarcoma susceptibility
- Monogenic short stature
- Adult solid tumours cancer susceptibility
- Childhood solid tumours
- Sarcoma of possible germline origin
- 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