Hydrocephalus

Gene: NF1

Green List (high evidence)

NF1 (neurofibromin 1)
EnsemblGeneIds (GRCh38): ENSG00000196712
EnsemblGeneIds (GRCh37): ENSG00000196712
OMIM: 613113, Gene2Phenotype
NF1 is in 30 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Clear evidence for causation. Phenotype associated with macrocephaly. From OMIM Macrocephaly and short stature have been reported in several clinical studies of NF1. Clementi et al. (1999) studied growth in 528 NF1 patients obtained from a population-based registry in northeast Italy. Although macrocephaly was a consistent and common finding in NF1, short stature was less prominent and less frequent than previously reported.
Created: 9 May 2017, 1:22 p.m.

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

Phenotypes
Neurofibromatosis, type 1

Publications

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to NF1.

31 May 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31.05.2017 - panel revised after internal curation and clinical review.

30 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

9 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

NF1 was added to Hydrocephaluspanel. Source: Expert Review Green

9 May 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

NF1 was created by helen.brittain

9 May 2017, Gel status: 0

Added New Source

Helen Brittain (Genomics England Curator)

NF1 was added to Hydrocephaluspanel. Sources: Literature