Paraganglioma_phaeochromocytoma

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. Paragangliomas and phaeochromocytomas reported in condition.

Single gene testing may be more appropriate if clinical features of NF1.
Sources: Expert list, Expert Review
Created: 18 Sep 2024, 9:09 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; 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).

18 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).

18 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 Paraganglioma_phaeochromocytoma. 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 Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; Neurofibromatosis type 1, MONDO:0018975; Neurofibromatosis, type 1, MIM#162200 Review for gene: NF1 was set to GREEN