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Refuted genes v0.13 LIPI Sarah Leigh gene: LIPI was added
gene: LIPI was added to Refuted genes. Sources: Expert list
Mode of inheritance for gene: LIPI was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: LIPI were set to hypertriglyceridemia
Review for gene: LIPI was set to RED
Added comment: From Lipoprotein lipase deficiency gene list (South West GLH). But recent review by Ada Hamosh (2019) noted that the C55Y (C76Y) variant was present in 1,382 of 282,752 alleles and in 8 homozygotes in the gnomAD database (June 25, 2019).
Sources: Expert list
Refuted genes v0.12 TMPO Louise Daugherty Phenotypes for gene: TMPO were changed from Dilated Cardiomyopathy; OMIM:115200 to Dilated Cardiomyopathy, 115200
Refuted genes v0.11 FANCM Rebecca Foulger Added comment: Comment on publications: More recent evidence that FANCM is not a Fanconi Anaemia gene comes from PMID:28837157 (Bogliolo et al., 2018) who report three individuals with biallelic FANCM truncating mutations who developed early-onset cancer but did not present congenital malformations or any hematological phenotype suggestive of FA.
Refuted genes v0.11 FANCM Rebecca Foulger Publications for gene: FANCM were set to
Refuted genes BDNF Ellen McDonagh Added gene to panel
Refuted genes FANCM Ellen McDonagh edited their review of FANCM
Refuted genes RAD51C Rebecca Foulger added RAD51C to panel
Refuted genes RAD51C Rebecca Foulger reviewed RAD51C
Refuted genes Ellen McDonagh approved panel
Refuted genes TMPO Ellen McDonagh edited their review of TMPO
Refuted genes TMPO Ellen McDonagh added TMPO to panel
Refuted genes TMPO Ellen McDonagh reviewed TMPO
Refuted genes FANCM Ellen McDonagh added FANCM to panel
Refuted genes FANCM Ellen McDonagh reviewed FANCM