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Intellectual disability - microarray and sequencing v5.326 RBL2 Sarah Leigh Tag Q4_23_promote_green tag was added to gene: RBL2.
Tag Q4_23_NHS_review tag was added to gene: RBL2.
Intellectual disability - microarray and sequencing v5.326 RBL2 Sarah Leigh Classified gene: RBL2 as Amber List (moderate evidence)
Intellectual disability - microarray and sequencing v5.326 RBL2 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Intellectual disability - microarray and sequencing v5.326 RBL2 Sarah Leigh Gene: rbl2 has been classified as Amber List (Moderate Evidence).
Intellectual disability - microarray and sequencing v5.325 RBL2 Sarah Leigh edited their review of gene: RBL2: Added comment: RBL2 variants have been associated with Brunet-Wagner neurodevelopmental syndrome (OMIM:619690) but not with phenotype in Gen2Phen. To date six RBL2 variants have been reported in four unrelated cases of OMIM:619690 (PMIDs: 32105419; 33980986).; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability - microarray and sequencing v5.325 RBL2 Sarah Leigh Phenotypes for gene: RBL2 were changed from intellectual diability to Brunet-Wagner neurodevelopmental syndrome, OMIM:619690
Intellectual disability - microarray and sequencing v5.324 RBL2 Sarah Leigh Publications for gene: RBL2 were set to 32105419; 9806916
Intellectual disability - microarray and sequencing v5.318 RBL2 Mike Spiller reviewed gene: RBL2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32105419, PMID: 33980986; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability - microarray and sequencing v3.125 RBL2 Sarah Leigh Deleted their comment
Intellectual disability - microarray and sequencing v3.125 RBL2 Sarah Leigh Deleted their comment
Intellectual disability - microarray and sequencing v3.123 RBL2 Sarah Leigh Classified gene: RBL2 as Red List (low evidence)
Intellectual disability - microarray and sequencing v3.123 RBL2 Sarah Leigh Added comment: Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen. Identified as a candidate gene in PMIDs 32105419; 9806916, with two variants in sibblings.
Intellectual disability - microarray and sequencing v3.123 RBL2 Sarah Leigh Gene: rbl2 has been classified as Red List (Low Evidence).
Intellectual disability - microarray and sequencing v3.121 RBL2 Sarah Leigh Classified gene: RBL2 as Red List (low evidence)
Intellectual disability - microarray and sequencing v3.121 RBL2 Sarah Leigh Added comment: Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen. Identified as a candidate gene in PMIDs 32105419; 9806916, with two variants in sibblings.
Intellectual disability - microarray and sequencing v3.121 RBL2 Sarah Leigh Gene: rbl2 has been classified as Red List (Low Evidence).
Intellectual disability - microarray and sequencing v3.119 RBL2 Sarah Leigh Classified gene: RBL2 as Red List (low evidence)
Intellectual disability - microarray and sequencing v3.119 RBL2 Sarah Leigh Added comment: Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen. Identified as a candidate gene in PMIDs 32105419; 9806916, with two variants in sibblings.
Intellectual disability - microarray and sequencing v3.119 RBL2 Sarah Leigh Gene: rbl2 has been classified as Red List (Low Evidence).
Intellectual disability - microarray and sequencing v3.80 RBL2 Zornitza Stark gene: RBL2 was added
gene: RBL2 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: RBL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBL2 were set to 32105419; 9806916
Phenotypes for gene: RBL2 were set to intellectual diability
Review for gene: RBL2 was set to RED
Added comment: Single family reported with pair of affected siblings. Supportive mouse model.
Sources: Literature