Familial rhabdomyosarcoma

Gene: NF1

Green List (high evidence)

NF1 (neurofibromin 1)
EnsemblGeneIds (GRCh38): ENSG00000196712
EnsemblGeneIds (GRCh37): ENSG00000196712
OMIM: 613113, Gene2Phenotype
NF1 is in 32 panels

1 review

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Causation is clear. Rhabdomyosarcomas are an uncommon complication. Reviewed with Clare Turnbull and Gareth Evans for consensus.
Created: 21 Dec 2017, 10:34 a.m.

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

Phenotypes
Neurofibromatosis, type 1 162200

History Filter Activity

21 Dec 2017, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

21st December 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation by Helen Brittain.

21 Dec 2017, Gel status: 3

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

21 Dec 2017, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for NF1 were set to Neurofibromatosis, type 1 162200

21 Dec 2017, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

21 Dec 2017, Gel status: 3

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

21 Dec 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

NF1 was added to Familial rhabdomyosarcoma panel. Sources: Literature

21 Dec 2017, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

NF1 was created by Louise Daugherty