Skeletal dysplasia
Gene: NF1
disorganized development of skeletal components gp of SD - macrocephaly and short stature have been reported in several clinical studies. ; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurofibromatosis, familial spinal 162210; Neurofibromatosis, type 1 162200; Neurofibromatosis-Noonan syndrome 601321
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: NF1; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported in NeurofibromatosisCreated: 29 Jul 2016, 8:25 a.m.
Comment on phenotypes: Variants also reported in Leukemia, juvenile myelomonocytic 607785 and Watson syndrome 193520Created: 29 Jul 2016, 8:25 a.m.
Tier 2Created: 17 Jun 2016, 8:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurofibromatosis, type 1 162200
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Neurofibromatosis, familial spinal 162210; Neurofibromatosis-Noonan syndrome 601321; Neurofibromatosis, type 1 162200 for gene: NF1
Source NHS GMS was added to NF1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for NF1 were set to Neurofibromatosis, familial spinal 162210; Neurofibromatosis, type 1 162200; Neurofibromatosis-Noonan syndrome 601321
Mode of inheritance for NF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
NF1 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
NF1 was created by sleigh
NF1 was added to Unexplained skeletal dysplasiapanel. Sources: