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Intellectual disability - microarray and sequencing v3.1564 SVBP Eleanor Williams Tag gene-checked tag was added to gene: SVBP.
Intellectual disability - microarray and sequencing 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 - microarray and sequencing v2.1132 SVBP Rebecca Foulger Classified gene: SVBP as Green List (high evidence)
Intellectual disability - microarray and sequencing 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 - microarray and sequencing v2.1132 SVBP Rebecca Foulger Gene: svbp has been classified as Green List (High Evidence).
Intellectual disability - microarray and sequencing 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 - microarray and sequencing 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 - microarray and sequencing 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 - microarray and sequencing v2.1119 SVBP Catherine Snow Publications for gene: SVBP were set to 26350204; 31363758; 30607023
Intellectual disability - microarray and sequencing v2.1119 SVBP Catherine Snow Phenotypes for gene: SVBP were changed from to Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, 618569
Intellectual disability - microarray and sequencing v2.1118 SVBP Catherine Snow Publications for gene: SVBP were set to 26350204
Intellectual disability - microarray and sequencing v2.1118 SVBP Catherine Snow Mode of inheritance for gene: SVBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability - microarray and sequencing 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 - microarray and sequencing 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