Skeletal dysplasia

Gene: FIG4

Green List (high evidence)

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 Lester

Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Yunis-Varon syndrome 216340

I don't know

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: Green

Created: 6 Mar 2019, 11:36 a.m.

Comment on phenotypes: Amyotrophic lateral sclerosis 11 OMIM:612577 is not relevant to this panel

Created: 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 611228

Created: 28 Jul 2016, 12:04 p.m.

Green List (high evidence)

Tier 1

Created: 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