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| Lipodystrophy - childhood onset v4.59 | PLA2G6 | Eleanor Williams Phenotypes for gene: PLA2G6 were changed from Associated with Lipodystrophy, familial partial, type 9, OMIM:620683; lipodystrophy, familial partial, type 9, MONDO:0958034 to none | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy - childhood onset v4.58 | PLA2G6 | Eleanor Williams Publications for gene: PLA2G6 were set to 37919452 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy - childhood onset v4.57 | PLA2G6 | Eleanor Williams Classified gene: PLA2G6 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy - childhood onset v4.57 | PLA2G6 | Eleanor Williams Gene: pla2g6 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy - childhood onset v4.55 | PLA2G6 | Eleanor Williams commented on gene: PLA2G6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy - childhood onset v4.55 | PLA2G6 | Eleanor Williams Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy - childhood onset v4.55 | PLA2G6 | Eleanor Williams Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy - childhood onset v4.55 | PLA2G6 |
Eleanor Williams gene: PLA2G6 was added gene: PLA2G6 was added to Lipodystrophy - childhood onset. Sources: Literature Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLA2G6 were set to 37919452 Phenotypes for gene: PLA2G6 were set to Associated with Lipodystrophy, familial partial, type 9, OMIM:620683; lipodystrophy, familial partial, type 9, MONDO:0958034 Added comment: Associated with Lipodystrophy, familial partial, type 9 620683 (AR) in OMIM where Demyelinating sensorimotor neuropathy is listed as a clinical feature. PMID: 37919452 - Schuermans et al 2023 - 7 patients from 4 unrelated families with 3 different homozygous variants (c.16-4823_118+167del p.(Pro6ValfsTer15), c.286dupG p.(Ala96GlyfsTer16) and c.339C>A p.(Cys113Ter). All patients had generalized or partial lipoatrophy, insulin resistance and Liver steatosis, and 6/7 showed Dyslipidemia/hypertriglyceridemia. Demyelinating peripheral neuropathy was seen in 5/7 patients from all 4 families. Psychomotor retardation/intellectual disability was observed in 3/7 patients but the severity is not recorded. Age of onset of symptoms was 19 years, 8 years, 9 months, 4 years, 4 years (not available for 2 patients). Function studies with PLAAT3 inactivation in human adipose stem cells provides evidence for PLAAT3 in PPARĪ³-mediated adipogenesis. Sources: Literature |
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