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Intellectual disability syndromic and non-syndromic v1.34 EP400 Bryony Thompson Marked gene: EP400 as ready
Intellectual disability syndromic and non-syndromic v1.34 EP400 Bryony Thompson Gene: ep400 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.34 EP400 Bryony Thompson Classified gene: EP400 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.34 EP400 Bryony Thompson Gene: ep400 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.33 EP400 Sangavi Sivagnanasundram gene: EP400 was added
gene: EP400 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: EP400 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EP400 were set to 39708813
Phenotypes for gene: EP400 were set to neurodevelopmental disorder with or without early-onset generalized epilepsy - MONDO:0030930
Review for gene: EP400 was set to GREEN
Added comment: 6 unrelated probands presenting with epilepsy with NDD (including ID and DD) had compound heterozygous variants in EP400. They were confirmed in trans and inherited from their asymptomatic parents.

Knockdown of EP400 ortholog in Drosophila showed an increase in seizure-like susceptibility and abnormal neurological behaviour.
Sources: Literature