Table 1.
Examples of novel human disease associated genes or phenotypic expansions studied by the MOSC Drosophila Core
| Human gene | Disease | Key Clinical collaborators | Fly gene | Classification | References |
|---|---|---|---|---|---|
| ANKLE2 | Primary autosomal recessive microcephaly 16 (OMIM #616681) | CMG [Baylor College of Medicine (BCM)] | Ankyrin repeat and LEM domain containing 2 (Ankle2) | Novel disease gene | (14, 32) |
| ARIH1 | Thoracic aortic aneurysms | CMG (University of Washington) |
ariadne 1 (ari-1) | Novel disease gene | (31) |
| ATAD3A | Harel-Yoon syndrome (OMIM #617183) | CMG (BCM) | belphegor (bor) | Novel disease gene | (47) |
| ATP5F1D | Mitochondrial complex V (ATP synthase) deficiency (OMIM #618120) | UDN (Stanford) | ATP synthase δ subunit (ATPsynδ) | Novel disease gene | (35) |
| CACNA1A | Early onset developmental delay, ataxia | UDN (BCM) | cacophony (cac) | Phenotypic expansion | (43) |
| DNMBP | Infantile cataracts | GeneMatcher (Univeristy of Geneva) |
still life (sif) | Novel disease gene | (49) |
| DNM1L | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 (OMIM #614388) | BCM | Dynamin related protein 1 (Drp1) | Phenotypic expansion | (44) |
| EBF3 | Hypotonia, ataxia and delayed development | UDN (NIH UDP) and BCM | knot (kn) | Novel gene | (29) |
| IRF2BPL | Neurodevelopmental disorder with regression, abnormal movements, loss of speech and seizures | UDN [(Duke University, University of California, Los Angeles(UCLA)] | Protein interacting with Ttk69 and Sin3A (Pits) | Novel disease gene | (46) |
| MARK3 | Visual impairment and progressive phthisis bulbi (OMIM #618283) | GeneMatcher (University of Geneva) |
par-1 | Phenotypic expansion | |
| NR5A1 | 46XY sex reversal 3 (OMIM #612965) | UDN (BCM/UCLA) | ftz transcription factor 1 (ftz-f1) | Phenotypic expansion | (9) |
| NRDC | Severe global developmental delay and ataxia | GeneMatcher (UCLA) | Nardylisin (Nrd1) | Novel disease gene | (30) |
| OGDHL | Global developmental delay with cerebral and cerebellar atrophy and corpus callosum abnormality | CMG (BCM) | Neural conserved at 73EF (Nc73EF) | Novel disease gene | (30) |
| TBX2 | Vertebral anomalies, endocrine and T-cell dysfunction (OMIM #618223) | UDN (Duke University, UCLA) |
bifid (bi) | Novel disease gene | (15) |
| TM2D3 | Late onset Alzheimer’s disease | CHARGE consortium | almondex (amx) | Susceptibility variant | (36) |
| WDR37 | Epilepsy, developmental delay, dysmorphic features and cataracts | UDN (NIH) | CG12333 (wdr37) | Novel disease gene | (28) |