Cytopenias and congenital anaemias
Gene: NF1
NF1 (neurofibromin 1)
EnsemblGeneIds (GRCh38): ENSG00000196712
EnsemblGeneIds (GRCh37): ENSG00000196712
OMIM: 613113, Gene2Phenotype
NF1 is in 33 panels
EnsemblGeneIds (GRCh38): ENSG00000196712
EnsemblGeneIds (GRCh37): ENSG00000196712
OMIM: 613113, Gene2Phenotype
NF1 is in 33 panels
2 reviews
Helen Brittain (Genomics England Curator)
Germline mutations are associated with NF1, which presents in other ways. Although 10-15% of people with JMML arise in those with NF1, this is rare within the NF1 group which would be expected to be ascertained via different routes. The oncogenic process from NF1 germline mutation to JMML is considered to be multi-step and not well understood. Not for use on a diagnostic panel.Created: 9 Mar 2017, 4:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurofibromatosis, type 1 162200
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- BRIDGE consortium (NIHRBR-RD)
- Phenotypes
-
- Myelodysplastic syndrome (MDS), Paediatric
- 162200
- OMIM
- 613113
- Clinvar variants
- Variants in NF1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Multiple monogenic benign skin tumours
- Primary lymphoedema
- Adult solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Familial pulmonary fibrosis
- Mosaic skin disorders - deep sequencing
- Segmental or atypical neurofibromatosis type 1 testing
- Monogenic hearing loss
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Hydrocephalus
- Sarcoma of possible germline origin
- RASopathies
- Inherited predisposition to GIST
- Pigmentary skin disorders
- Cerebral vascular malformations
- Skeletal dysplasia
- Childhood solid tumours cancer susceptibility
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Inherited phaeochromocytoma and paraganglioma
- Monogenic short stature
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Sarcoma cancer susceptibility
- Cytopenias and congenital anaemias
- Neurofibromatosis Type 1
- Adult solid tumours for rare disease
- Neurofibromatosis type 1 (GMS)
- Sarcoma susceptibility
- DDG2P
- Childhood solid tumours
- Intellectual disability
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
History Filter Activity
11 Mar 2017, Gel status: 1
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
9 Mar 2017, Gel status: 1
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)NF1 was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red Model of inheritance for gene NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
17 Feb 2017, Gel status: 0
Created
Louise Daugherty (Genomics England Curator)NF1 was created by LouiseD
17 Feb 2017, Gel status: 0
Added New Source
Louise Daugherty (Genomics England Curator)NF1 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)