Skeletal dysplasia
Gene: LIFR
Campomelic dysplasia and related disorders gp of SD - many cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome 601559
Comment on mode of inheritance: Mode of inheritance of BIALLELIC is correct for the Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome phenotype and this panel. Heterozygous variants are associated with a CAKUT phenotype.Created: 1 Mar 2022, 5:11 p.m. | Last Modified: 1 Mar 2022, 5:11 p.m.
Panel Version: 2.171
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: LIFR; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 9:36 a.m.
Comment when marking as ready: Numerous variants reported in this phenotype.Created: 12 Jul 2016, 9:44 a.m.
Tier 1Created: 17 Jun 2016, 8:05 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome 601559
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: LIFR were changed from Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome 601559 to Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, OMIM:601559
Mode of inheritance for gene: LIFR was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome 601559 for gene: LIFR
Source NHS GMS was added to LIFR. 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 LIFR were set to Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome 601559
Mode of inheritance for LIFR was changed to BIALLELIC, autosomal or pseudoautosomal
LIFR was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
LIFR was added to Unexplained skeletal dysplasiapanel. Sources:
LIFR was created by sleigh