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Cytopenias and congenital anaemias

Gene: NF1

Red List (low evidence)

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

2 reviews

Helen Brittain (Genomics England Curator)

Red List (low evidence)

Germline mutations are associated with NF1, which presents in other ways. Although 10-15% of people with JMML arise in those with NF1, this is rare within the NF1 group which would be expected to be ascertained via different routes. The oncogenic process from NF1 germline mutation to JMML is considered to be multi-step and not well understood. Not for use on a diagnostic panel.
Created: 9 Mar 2017, 4:32 p.m.

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

Phenotypes
Neurofibromatosis, type 1 162200

Publications

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
Unknown

Phenotypes
Myelodysplastic syndrome (MDS), Paediatric

Publications

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

History Filter Activity

11 Mar 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

9 Mar 2017, Gel status: 1

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

NF1 was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red Model of inheritance for gene NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

NF1 was created by LouiseD

17 Feb 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

NF1 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)