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Intellectual disability v9.331 SVBP Arina Puzriakova Tag gene-checked was removed from gene: SVBP.
Intellectual disability v3.1564 SVBP Eleanor Williams Tag gene-checked tag was added to gene: SVBP.
Intellectual disability v3.576 SVBP Arina Puzriakova Phenotypes for gene: SVBP were changed from Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, 618569 to Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, OMIM:618569; Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, MONDO:0032816
Intellectual disability v2.1132 SVBP Rebecca Foulger Classified gene: SVBP as Green List (high evidence)
Intellectual disability v2.1132 SVBP Rebecca Foulger Added comment: Comment on list classification: Updated rating to Green to match Green review by Catherine Snow. Phenotypes include global DD and intellectual disability in >3 families.
Intellectual disability v2.1132 SVBP Rebecca Foulger Gene: svbp has been classified as Green List (High Evidence).
Intellectual disability v2.1119 SVBP Catherine Snow Phenotypes for gene: SVBP were changed from Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, 618569 to Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, 618569
Intellectual disability v2.1119 SVBP Catherine Snow Mode of inheritance for gene: SVBP was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.1119 SVBP Catherine Snow Phenotypes for gene: SVBP were changed from Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, 618569 to Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, 618569
Intellectual disability v2.1119 SVBP Catherine Snow Publications for gene: SVBP were set to 26350204; 31363758; 30607023
Intellectual disability v2.1119 SVBP Catherine Snow Phenotypes for gene: SVBP were changed from to Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, 618569
Intellectual disability v2.1118 SVBP Catherine Snow Publications for gene: SVBP were set to 26350204
Intellectual disability v2.1118 SVBP Catherine Snow Mode of inheritance for gene: SVBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.1117 SVBP Catherine Snow reviewed gene: SVBP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, 618569; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.1092 SVBP Alistair Pagnamenta reviewed gene: SVBP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31363758, 30607023; Phenotypes: brain abnormalities, microcephaly, intellectual disability, delayed gross motor development, spasticity, delayed speech development; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal