Cerebral vascular malformations
Gene: NF1EnsemblGeneIds (GRCh38): ENSG00000196712
EnsemblGeneIds (GRCh37): ENSG00000196712
OMIM: 613113, Gene2Phenotype
NF1 is in 32 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Combined reviews: Ian Berry (YNELGH) PMC4337618 suggests 2.5-6% of cases have cerebral arteriopathies. Other features more prominent - borderline. Expert opinion (Vijeya Ganesan- GOSH / ICH) - I would not test for this in the absence of other clinical features. Therefore combined rating = amberCreated: 29 Nov 2019, 7:02 p.m. | Last Modified: 29 Nov 2019, 7:02 p.m.
Panel Version: 1.67
Alice Gardham (Genomics England)
Comment on list classification: Moyamoya is a recognised complication of NF1Created: 12 Dec 2016, 4:28 p.m.
Moyamoya is a recognised complication of NF1Created: 12 Dec 2016, 4:28 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurofibromatosis, type 1 162200
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Yorkshire and North East GLH
- NHS GMS
- Expert list
- Phenotypes
-
- Moyamoya disease, MONDO:0016820
- Neurofibromatosis, type 1, OMIM:162200
- OMIM
- 613113
- Clinvar variants
- Variants in NF1
- Penetrance
- Complete
- 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
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: NF1 were changed from Moyamoya disease; Neurofibromatosis, type 1 162200 to Moyamoya disease, MONDO:0016820; Neurofibromatosis, type 1, OMIM:162200
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Amber was added to NF1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to NF1.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to NF1.
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for NF1 were set to Moyamoya disease;Neurofibromatosis, type 1 162200
Set publications
Ellen McDonagh (Genomics England Curator)Publications for NF1 were set to 10754001
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for NF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on the 19th December 2016
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)NF1 was added to Cerebrovascular disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)NF1 was created by ellenmcdonagh