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| Malformations of cortical development v2.49 | FIG4 | Sarah Leigh Classified gene: FIG4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.49 | FIG4 | Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with ?Polymicrogyria, bilateral temporooccipital OMIM:612691 in Gen2Phen. A single missense variant has been reported in a large consanguineous Moroccan family, supportive functional studies were also reported (PMID: 24598713). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.49 | FIG4 | Sarah Leigh Gene: fig4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.48 | FIG4 | Sarah Leigh Added comment: Comment on phenotypes: FIG4 variants also are associated with Amyotrophic lateral sclerosis 11 OMIM:612577; Charcot-Marie-Tooth disease, type 4J OMIM:611228 and Yunis-Varon syndrome OMIM:216340, but these phenotypes are not appropriate for this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.48 | FIG4 | Sarah Leigh Phenotypes for gene: FIG4 were changed from ?Polymicrogyria, bilateral temporooccipital OMIM:612691; bilateral parasagittal parieto-occipital polymicrogyria MONDO:0012986 to ?Polymicrogyria, bilateral temporooccipital OMIM:612691; bilateral parasagittal parieto-occipital polymicrogyria MONDO:0012986 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.47 | FIG4 | Sarah Leigh Phenotypes for gene: FIG4 were changed from Polymicrogyria with epilepsy MIM# 612691 to ?Polymicrogyria, bilateral temporooccipital OMIM:612691; bilateral parasagittal parieto-occipital polymicrogyria MONDO:0012986 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.13 | FIG4 |
Zornitza Stark gene: FIG4 was added gene: FIG4 was added to Malformations of cortical development. Sources: Expert list Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FIG4 were set to 18758830; 24598713 Phenotypes for gene: FIG4 were set to Polymicrogyria with epilepsy MIM# 612691 Review for gene: FIG4 was set to AMBER Added comment: One family and a supportive mouse model: PMID 18758830 – Ben Cheikh et al (2009) studied a large consanguineous Moroccan family in which bilateral occipital polymicrogyria segregated as an autosomal recessive trait, establishing linkage to 6q16-q22 by homozygosity mapping. Three affected individuals had epilepsy and polymicrogyria (other siblings had variable phenotypes). PMID 24598713 – Baulac et al (2014) analysed the consanguineous Moroccan family and detected a homozygous missense variant in FIG4, which was homozygous in each of the affected siblings with polymicrogyria, heterozygous in one healthy sibling, not present in three healthy siblings, heterozygous in both parents and not tested in a further four siblings. They went on to study transfected fibroblasts from FIG4 deficient mice and examined histologically brains from FIG4-null mice which had findings that included changes “reminiscent of human cortical malformations”. Sources: Expert list |
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