Skeletal dysplasia
Gene: FIG4
Cleidocranial dysplasia and related disorders gp of SD - at least 3 unrelated cases reported with Yunis-Varon. Variants also associated with Charcot-Marie-Tooth disease type 4J, 611228 and Amyotrophic lateral sclerosis 11 612577.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Yunis-Varon syndrome 216340
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: FIG4; Initial rating suggestion: GreenCreated: 6 Mar 2019, 11:36 a.m.
Comment on phenotypes: Amyotrophic lateral sclerosis 11 OMIM:612577 is not relevant to this panelCreated: 17 Aug 2021, 1:11 p.m. | Last Modified: 17 Aug 2021, 1:11 p.m.
Panel Version: 2.115
Comment when marking as ready: Associated with phenotypes in OMIM and G2P. At least three variants reported in four variants reported Amyotrophic lateral sclerosis 11 (612577) and at least four in Yunis-Varon syndrome (216340)Created: 28 Jul 2016, 12:11 p.m.
Comment on phenotypes: Variants have also been reported in Polymicrogyria, bilateral temporooccipital 612691; Charcot-Marie-Tooth disease, type 4J 611228Created: 28 Jul 2016, 12:04 p.m.
Tier 1Created: 17 Jun 2016, 8:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Polymicrogyria, bilateral temporooccipital 612691; Amyotrophic lateral sclerosis 11 612577; Charcot-Marie-Tooth disease, type 4J 611228; Yunis-Varon syndrome 216340
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: FIG4 were changed from Yunis-Varon syndrome 216340; Amyotrophic lateral sclerosis 11 612577; Yunis-Varon syndrome 216340 to Charcot-Marie-Tooth disease, type 4J, OMIM:611228; Charcot-Marie-Tooth disease type 4J MONDO:0012640; Yunis Varon syndrome OMIM:216340; Yunis-Varon syndrome MONDO:0008995
Added phenotypes Yunis-Varon syndrome 216340 for gene: FIG4
Source NHS GMS was added to FIG4. 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).
Mode of inheritance for FIG4 was changed to BIALLELIC, autosomal or pseudoautosomal
FIG4 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Phenotypes for FIG4 were set to Amyotrophic lateral sclerosis 11 612577; Yunis-Varon syndrome 216340
FIG4 was added to Unexplained skeletal dysplasiapanel. Sources:
FIG4 was created by sleigh