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
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
Neurofibromatosis, type 1
Source NHS GMS was added to NF1.
31.05.2017 - panel revised after internal curation and clinical review.
This gene has been classified as Green List (High Evidence).
NF1 was added to Hydrocephaluspanel. Source: Expert Review Green
NF1 was created by helen.brittain
NF1 was added to Hydrocephaluspanel. Sources: Literature