Inherited phaeochromocytoma and paraganglioma excluding NF1
Gene: NF1EnsemblGeneIds (GRCh38): ENSG00000196712
EnsemblGeneIds (GRCh37): ENSG00000196712
OMIM: 613113, Gene2Phenotype
NF1 is in 32 panels
1 review
Ivone Leong (Genomics England Curator)
Submitted on behalf of NHS GMS "No. Has been discussed previously and agreed this should not be part of this panel. It is a seperate entity"Created: 3 Mar 2022, 3:42 p.m. | Last Modified: 3 Mar 2022, 3:42 p.m.
Panel Version: 1.23
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 3:42 p.m. | Last Modified: 3 Mar 2022, 3:42 p.m.
Panel Version: 1.23
This gene was suggested to be added and given a Green rating by Ruth Casey (Cambridge University Hospital).
This gene is Green on the Inherited phaeochromocytoma and paraganglioma (Version 1.6). This gene should be reconsidered for inclusion in this panel by the GMS specialist group.
Sources: Expert listCreated: 16 Feb 2021, 11:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
NF1
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- NF1
- OMIM
- 613113
- Clinvar variants
- Variants in NF1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Inherited predisposition to GIST
- Familial pulmonary fibrosis
- Segmental or atypical neurofibromatosis type 1 testing
- Haematological malignancies cancer susceptibility
- Pigmentary skin disorders
- Cerebral vascular malformations
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Hydrocephalus
- RASopathies
- Mosaic skin disorders - deep sequencing
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Inherited phaeochromocytoma and paraganglioma
- Cytopenias and congenital anaemias
- Multiple monogenic benign skin tumours
- Familial Tumours Syndromes of the central & peripheral Nervous system
- DDG2P
- Sarcoma cancer susceptibility
- Intellectual disability
- Monogenic short stature
- Neurofibromatosis Type 1
- Adult solid tumours for rare disease
- Sarcoma susceptibility
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Paediatric or syndromic cardiomyopathy
- Monogenic hearing loss
- Neurofibromatosis type 1 (GMS)
- Skeletal dysplasia
- Primary lymphoedema
History Filter Activity
Removed Tag, Removed Tag, Removed Tag
Ivone Leong (Genomics England Curator)Tag Q2_21_rating was removed from gene: NF1. Tag Q2_21_phenotype was removed from gene: NF1. Tag Q2_21_NHS_review was removed from gene: NF1.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Red was added to NF1. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Added Tag, Added Tag
Ivone Leong (Genomics England Curator)Tag Q2_21_rating tag was added to gene: NF1. Tag Q2_21_NHS_review tag was added to gene: NF1.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: nf1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: NF1 was added gene: NF1 was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert list Q2_21_phenotype tags were added to gene: NF1. Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NF1 were set to 22429592; 16735498 Phenotypes for gene: NF1 were set to NF1 Review for gene: NF1 was set to GREEN