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| Mendeliome v2.0 | FAT3 | Gene migrated from ENSG00000165323 to ENSG00000165323 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4953 | FAT3 | Zornitza Stark Marked gene: FAT3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4953 | FAT3 | Zornitza Stark Gene: fat3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4948 | FAT3 | Lucy Spencer Classified gene: FAT3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4948 | FAT3 | Lucy Spencer Gene: fat3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4947 | FAT3 |
Lucy Spencer gene: FAT3 was added gene: FAT3 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: FAT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAT3 were set to 41937739; 35853984; 31486992; 26559152 Phenotypes for gene: FAT3 were set to Peripheral neuropathy MONDO:0005244, FAT3-related Review for gene: FAT3 was set to AMBER Added comment: AMBER for peripheral neuropathy PMID: 41937739 3 probands with peripheral neuropathies: distal muscle weakness, cranial nerve involvement, dysarthria, and bulbar involvement or respiratory failure. 2 probands had early childhood onset while the third had onset in their 30's. One proband was more severely affected with developmental abnormalities including congenital scoliosis, intestinal obstruction, ventriculomegaly, and corpus callosum thinning. All had homozygous or compound heterozygous missense (p.(Pro2041His, Cys3776Tyr, Met1749Val, Arg3276Gln), all fairly rare in gnomad with no homs. A neuron-specific knockdown of FAT3 in flies impaired motility, reduced lifespan and reduced synaptic branch length. intercrosses of mice heterozygous for the patient variant Pro2041His showed markedly fewer homozygotes than expected suggesting it is lethal in the homozygous state. KO mice and mice with Pro2041His exhibited CNS abnormalities including cerebellar abnormalities. Wide phenotypic variability and age of onset, only missense reported with functional studies only performed on one variant. RED for Hirschprung PMID: 26559152 6 FAT3 variant across 5 families with Hirscprung disease. However 3 of the variants are common in gnomad (77 hets or more, 2 with homs). The paper also mentions non-segregation of the phenotype with the variant within some of these families. RED for hyperparathyroidism PMID: 31486992 3 families with hyperparathyroidism and heterozygous missense variants in FAT3. 2 of the variants did not segregate well (observed in unaffected adult family members and/or not observed in affected family members). 2 of the variants were also very common in gnomad including homozygotes. Red for isolated scoliosis PMID: 35853984 2 compound heterozygous missense in 3 siblings with adolescent scoliosis. the variants were common in gnomad with homozygotes. Sources: Literature |
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