Skeletal dysplasia
Gene: NFIX
Overgrowth (tall stature) syndromes with skeletal involvement. Several cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Marshall-Smith syndrome 602535; Sotos syndrome 2 614753
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: NFIX; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 12:58 p.m.
Tier 2Created: 17 Jun 2016, 8:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Marshall-Smith syndrome 602535; Sotos syndrome 2 614753
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Marshall-Smith syndrome 602535; Sotos syndrome 2 614753 for gene: NFIX
Source NHS GMS was added to NFIX. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Mode of inheritance for NFIX was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for NFIX were set to Marshall-Smith syndrome 602535; Sotos syndrome 2 614753
This gene has been classified as Green List (High Evidence).
NFIX was added to Unexplained skeletal dysplasiapanel. Sources:
NFIX was created by sleigh