Radial dysplasia
Gene: FIG4Comment when marking as ready: Sufficient cases. In biallelic form, causes Yunis-Varon syndrome; absent thumbs is a feature therefore in the differential.Created: 11 May 2017, 12:12 p.m.
Amyotrophic lateral sclerosis 11 OMIM:612577 is not relevant to this panel, so bialellic mode of inheritance is appropriate.Created: 17 Aug 2021, 1:42 p.m. | Last Modified: 17 Aug 2021, 1:42 p.m.
Panel Version: 1.15
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; Aplastic/hypoplastic thumbs; absent thumbs to Yunis Varon syndrome OMIM:216340; Yunis-Varon syndrome MONDO:0008995
23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Phenotypes for FIG4 were set to Yunis-Varon syndrome, 216340; Aplastic/hypoplastic thumbs; absent thumbs
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for FIG4 were set to 23623387
FIG4 was added to Radial dysplasiapanel. Sources: Expert list
FIG4 was created by rfoulger
FIG4 was added to Radial dysplasiapanel. Sources: Other