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Inherited predisposition to GIST

Gene: NF1

Red List (low evidence)

NF1 (neurofibromin 1)
EnsemblGeneIds (GRCh38): ENSG00000196712
EnsemblGeneIds (GRCh37): ENSG00000196712
OMIM: 613113, Gene2Phenotype
NF1 is in 31 panels

3 reviews

Anna de Burca (Genomics England Curator)

Comment on list classification: Although NF1 is associated with GIST, it was agreed that the gene should not be included in this panel as it is expected that the referring clinician will be able to exclude Neurofibromatosis type 1 on clinical examination.
Created: 8 Feb 2019, 11:44 a.m.

Rachel Robinson (Leeds Genetics Laboratory)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Tumor Suppressor.
Created: 5 Jul 2017, 12:19 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Neurofibromatosis

History Filter Activity

8 Mar 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: NF1 were changed from to Neurofibromatosis, type 1, OMIM:162200

8 Feb 2019, Gel status: 1

Entity classified by Genomics England curator

Anna de Burca (Genomics England Curator)

Gene: nf1 has been classified as Red List (Low Evidence).

30 Jan 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: NF1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: nf1 has been classified as Green List (High Evidence).

30 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: NF1 was added gene: NF1 was added to Inherited predisposition to GIST. Sources: NHS GMS Mode of inheritance for gene: NF1 was set to