Familial rhabdomyosarcoma
Gene: NF1EnsemblGeneIds (GRCh38): ENSG00000196712
EnsemblGeneIds (GRCh37): ENSG00000196712
OMIM: 613113, Gene2Phenotype
NF1 is in 33 panels
1 review
Helen Brittain (Genomics England Curator)
Causation is clear. Rhabdomyosarcomas are an uncommon complication. Reviewed with Clare Turnbull and Gareth Evans for consensus.Created: 21 Dec 2017, 10:34 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurofibromatosis, type 1 162200
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Neurofibromatosis, type 1 162200
- OMIM
- 613113
- Clinvar variants
- Variants in NF1
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Pigmentary skin disorders
- Inherited predisposition to GIST
- Familial pulmonary fibrosis
- Segmental or atypical neurofibromatosis type 1 testing
- Mosaic skin disorders - deep sequencing
- Sarcoma of possible germline origin
- Fetal anomalies
- Cerebral vascular malformations
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Skeletal dysplasia
- Monogenic short stature
- RASopathies
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Childhood solid tumours cancer susceptibility
- Inherited phaeochromocytoma and paraganglioma
- Haematological malignancies cancer susceptibility
- Paediatric or syndromic cardiomyopathy
- Multiple monogenic benign skin tumours
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Sarcoma cancer susceptibility
- Primary lymphoedema
- Cytopenias and congenital anaemias
- Neurofibromatosis Type 1
- Hydrocephalus
- Childhood solid tumours
- Monogenic hearing loss
- Adult solid tumours for rare disease
- Sarcoma susceptibility
- Adult solid tumours cancer susceptibility
- DDG2P
- Neurofibromatosis type 1 (GMS)
History Filter Activity
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)21st December 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation by Helen Brittain.
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for NF1 were set to Neurofibromatosis, type 1 162200
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for NF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)NF1 was added to Familial rhabdomyosarcoma panel. Sources: Literature
Created
Louise Daugherty (Genomics England Curator)NF1 was created by Louise Daugherty