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Gastrointestinal Stromal Tumour

Gene: NF1

Green List (high evidence)

NF1 (neurofibromin 1)
EnsemblGeneIds (GRCh38): ENSG00000196712
EnsemblGeneIds (GRCh37): ENSG00000196712
OMIM: 613113, Gene2Phenotype
NF1 is in 26 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ClinGen definitive. GIST reported in condition.
Single gene testing may be more appropriate if clinical features of NF1.
Sources: Expert list, Expert Review
Created: 12 Sep 2024, 4:22 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Gastrointestinal stromal tumor, MONDO:0011719; Neurofibromatosis type 1, MONDO:0018975; Neurofibromatosis, type 1, MIM#162200

History Filter Activity

9 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

12 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

12 Sep 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

gene: NF1 was added gene: NF1 was added to Gastrointestinal Stromal Tumour. Sources: Expert list,Expert Review Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NF1 were set to Gastrointestinal stromal tumor, MONDO:0011719; Neurofibromatosis type 1, MONDO:0018975; Neurofibromatosis, type 1, MIM#162200 Review for gene: NF1 was set to GREEN