Cerebral vascular malformations

Gene: NF1

Amber List (moderate evidence)

NF1 (neurofibromin 1)
EnsemblGeneIds (GRCh38): ENSG00000196712
EnsemblGeneIds (GRCh37): ENSG00000196712
OMIM: 613113, Gene2Phenotype
NF1 is in 30 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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 = amber
Created: 29 Nov 2019, 7:02 p.m. | Last Modified: 29 Nov 2019, 7:02 p.m.
Panel Version: 1.67

Alice Gardham (Genomics England)

Green List (high evidence)

Comment on list classification: Moyamoya is a recognised complication of NF1
Created: 12 Dec 2016, 4:28 p.m.
Moyamoya is a recognised complication of NF1
Created: 12 Dec 2016, 4:28 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurofibromatosis, type 1 162200

Publications

History Filter Activity

29 Nov 2019, Gel status: 2

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)

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to NF1.

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to NF1.

19 Dec 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for NF1 were set to Moyamoya disease;Neurofibromatosis, type 1 162200

19 Dec 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for NF1 were set to 10754001

19 Dec 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for NF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

19 Dec 2016, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

12 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

12 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

2 Nov 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

NF1 was added to Cerebrovascular disorderspanel. Sources: Expert list

2 Nov 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

NF1 was created by ellenmcdonagh