Limb disordersGene: FIG4
Comment 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, 1:41 p.m. | Last Modified: 17 Aug 2021, 1:41 p.m.
Panel Version: 2.51
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.
Created: 17 Jun 2016, 8:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
?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 Aplastic/hypoplastic thumbs; Yunis-Varon syndrome, 216340; absent thumbs to Yunis Varon syndrome OMIM:216340; Yunis-Varon syndrome MONDO:0008995
Ana Beleza: Tier 1
Source Expert Review Green was added to FIG4. Added phenotypes Aplastic/hypoplastic thumbs; Yunis-Varon syndrome, 216340; absent thumbs for gene: FIG4 Publications for gene FIG4 were changed from to 23623387
gene: FIG4 was added gene: FIG4 was added to Limb disorders. Sources: Other Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FIG4 were set to Yunis-Varon syndrome, 216340