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Intellectual disability syndromic and non-syndromic v0.3124 NUS1 Zornitza Stark Phenotypes for gene: NUS1 were changed from Epilepsy; intellectual disability to Mental retardation, autosomal dominant 55, with seizures, MIM# 617831
Intellectual disability syndromic and non-syndromic v0.3123 NUS1 Zornitza Stark edited their review of gene: NUS1: Changed phenotypes: Mental retardation, autosomal dominant 55, with seizures, MIM# 617831
Intellectual disability syndromic and non-syndromic v0.1479 NUS1 Zornitza Stark Marked gene: NUS1 as ready
Intellectual disability syndromic and non-syndromic v0.1479 NUS1 Zornitza Stark Gene: nus1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1479 NUS1 Zornitza Stark Classified gene: NUS1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1479 NUS1 Zornitza Stark Gene: nus1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1478 NUS1 Zornitza Stark gene: NUS1 was added
gene: NUS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: NUS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NUS1 were set to 31656175; 29100083
Phenotypes for gene: NUS1 were set to Epilepsy; intellectual disability
Review for gene: NUS1 was set to GREEN
Added comment: Five individuals reported with de novo variants in this gene and epilepsy/ID phenotype (4 truncating variants and a small deletion).
Sources: Literature