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Intellectual disability v3.1564 NCKAP1 Arina Puzriakova Tag gene-checked tag was added to gene: NCKAP1.
Intellectual disability v3.1519 NCKAP1 Ivone Leong Tag Q2_21_rating was removed from gene: NCKAP1.
Intellectual disability v3.1519 NCKAP1 Sarah Leigh commented on gene: NCKAP1
Intellectual disability v3.1519 NCKAP1 Ivone Leong Source Expert Review Green was added to NCKAP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1033 NCKAP1 Arina Puzriakova Tag Q2_21_rating tag was added to gene: NCKAP1.
Intellectual disability v3.1033 NCKAP1 Arina Puzriakova Classified gene: NCKAP1 as Amber List (moderate evidence)
Intellectual disability v3.1033 NCKAP1 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. Guo et al 2020 (PMID:33157009) describe multiple families with inherited and de novo deleterious NCKAP1 variants. Neurodevelopmental features represent the core phenotypes, including autistic features, psychomotor delays, and ID or learning disabilities (10/16 individuals had a diagnosis of mild to severe ID)
Intellectual disability v3.1033 NCKAP1 Arina Puzriakova Gene: nckap1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.1032 NCKAP1 Arina Puzriakova Phenotypes for gene: NCKAP1 were changed from to Intellectual disability; Autism
Intellectual disability v3.1031 NCKAP1 Arina Puzriakova Publications for gene: NCKAP1 were set to
Intellectual disability v3.1030 NCKAP1 Arina Puzriakova Mode of inheritance for gene: NCKAP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v3.1003 NCKAP1 Zornitza Stark reviewed gene: NCKAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33157009; Phenotypes: Intellectual disability, autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v2.468 NCKAP1 Louise Daugherty gene: NCKAP1 was added
gene: NCKAP1 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: NCKAP1 was set to