This Panel is marked as Internal
Moyamoya disease
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
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Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert list
- OMIM
- 613113
- Clinvar variants
- Variants in NF1
- Penetrance
- Complete
- 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
- Fetal anomalies
- Inherited predisposition to GIST
- Childhood solid tumours cancer susceptibility
- Primary lymphoedema
- Multiple monogenic benign skin tumours
- Inherited phaeochromocytoma and paraganglioma
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Sarcoma cancer susceptibility
- Cytopenias and congenital anaemias
- Monogenic hearing loss
- Paediatric or syndromic cardiomyopathy
- 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
30 Mar 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)NF1 was added to Moyamoya diseasepanel. Sources: Expert list
30 Mar 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)NF1 was created by ellenmcdonagh