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Intellectual disability syndromic and non-syndromic v0.6079 LEO1 Zornitza Stark Marked gene: LEO1 as ready
Intellectual disability syndromic and non-syndromic v0.6079 LEO1 Zornitza Stark Gene: leo1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.6079 LEO1 Zornitza Stark Classified gene: LEO1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.6079 LEO1 Zornitza Stark Gene: leo1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.6078 LEO1 Zornitza Stark gene: LEO1 was added
gene: LEO1 was added to Intellectual disability syndromic and non-syndromic. 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
Added comment: 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