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Mendeliome

Gene: LEO1

Amber List (moderate evidence)

LEO1 (LEO1 homolog, Paf1/RNA polymerase II complex component)
EnsemblGeneIds (GRCh38): ENSG00000166477
EnsemblGeneIds (GRCh37): ENSG00000166477
OMIM: 610507, Gene2Phenotype
LEO1 is in 2 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

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
Created: 1 Aug 2024, 6:39 a.m. | Last Modified: 1 Aug 2024, 7:25 a.m.
Panel Version: 1.1913

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder MONDO:0700092, LEO-1 related

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder MONDO:0700092, LEO-1 related
OMIM
610507
Clinvar variants
Variants in LEO1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Aug 2024, Gel status: 2

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: leo1 has been classified as Amber List (Moderate Evidence).

1 Aug 2024, Gel status: 2

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: leo1 has been classified as Amber List (Moderate Evidence).

1 Aug 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

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