Facial papules

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Facial papules and facial plexiform neurofibromatosis have been reported as a presenting feature of the condition.
Sources: Literature
Created: 19 Jun 2023, 1:05 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurofibromatosis type 1 MONDO:0018975

Publications

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

History Filter Activity

19 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

19 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

19 Jun 2023, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: NF1 was added gene: NF1 was added to Facial papules. Sources: Literature Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NF1 were set to 23984232; 32298062; 34164111 Phenotypes for gene: NF1 were set to neurofibromatosis type 1 MONDO:0018975 Review for gene: NF1 was set to GREEN gene: NF1 was marked as current diagnostic