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| Mendeliome v1.1913 | LEO1 |
Ain Roesley changed review comment from: cohort of individuals with delayed motor and speech development, ASD 8x de novo – 6x missense + 2x PTC 1x pat splice (father unaffected) 2x unknown_inh PTCs Of the missense variants, G370E has 8 hets in gnomad v4 This gene is not constraint for LoF with 4 hets with an NMD variant in gnomad v4 Sources: Literature; to: cohort of individuals with delayed motor and speech development, ASD 8x de novo – 6x missense + 2x PTC 1x pat splice (father unaffected) 2x unknown_inh PTCs Of the missense variants, G370E has 8 hets in gnomad v4 This gene is not constraint for LoF with 4 hets with an NMD variant in gnomad v4 3 of the missense are said to lie within a region of missense constraint, however this isn't the case in v4 Sources: Literature |
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| Mendeliome v1.1911 | LEO1 |
Ain Roesley changed review comment from: enrichment of a neurodev cohort LEO1: 8x de novo – 6x missense + 2x PTC 1x pat splice (father unaffected) 2x unknown_inh PTCs Of the missense variants, G370E has 8 hets in gnomad v4 This gene is not constraint for LoF with 4 hets with an NMD variant in gnomad v4 Sources: Literature; to: cohort of individuals with delayed motor and speech development, ASD 8x de novo – 6x missense + 2x PTC 1x pat splice (father unaffected) 2x unknown_inh PTCs Of the missense variants, G370E has 8 hets in gnomad v4 This gene is not constraint for LoF with 4 hets with an NMD variant in gnomad v4 Sources: Literature |
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| Mendeliome v1.1911 | LEO1 |
Ain Roesley changed review comment from: enrichment of a neurodev cohort LEO1: 8x de novo – 6x missense + 2x PTC 1x pat splice 2x unknown_inh PTCs Of the missense variants, G370E has 8 hets in gnomad v4 This gene is not constraint for LoF with 4 hets with an NMD variant in gnomad v4 Sources: Literature; to: enrichment of a neurodev cohort LEO1: 8x de novo – 6x missense + 2x PTC 1x pat splice (father unaffected) 2x unknown_inh PTCs Of the missense variants, G370E has 8 hets in gnomad v4 This gene is not constraint for LoF with 4 hets with an NMD variant in gnomad v4 Sources: Literature |
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| Mendeliome v1.1911 | LEO1 | Ain Roesley Marked gene: LEO1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1911 | LEO1 | Ain Roesley Gene: leo1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1911 | LEO1 | Ain Roesley Classified gene: LEO1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1911 | LEO1 | Ain Roesley Gene: leo1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1910 | LEO1 |
Ain Roesley gene: LEO1 was added gene: LEO1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: LEO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LEO1 were set to 38965372 Phenotypes for gene: LEO1 were set to neurodevelopmental disorder MONDO:0700092, LEO-1 related Review for gene: LEO1 was set to AMBER gene: LEO1 was marked as current diagnostic Added comment: enrichment of a neurodev cohort LEO1: 8x de novo – 6x missense + 2x PTC 1x pat splice 2x unknown_inh PTCs Of the missense variants, G370E has 8 hets in gnomad v4 This gene is not constraint for LoF with 4 hets with an NMD variant in gnomad v4 Sources: Literature |
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