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Intellectual disability v8.130 RBBP5 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: RBBP5.
Intellectual disability v8.97 RBBP5 Sarah Leigh Tag Q3_24_promote_green was removed from gene: RBBP5.
Intellectual disability v8.97 RBBP5 Sarah Leigh reviewed gene: RBBP5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v8.97 RBBP5 Sarah Leigh Source NHS GMS was added to RBBP5.
Source Expert Review Green was added to RBBP5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.7 RBBP5 Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v7.7 RBBP5 Achchuthan Shanmugasundram Classified gene: RBBP5 as Amber List (moderate evidence)
Intellectual disability v7.7 RBBP5 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, PMID:39036895 reported five unrelated cases with five different heterozygous RBBP5 variants, of which four patients had developmental delay and intellectual disability (3 with severe ID and one with mild ID).

This gene has not yet been associated with relevant phenotypes wither in OMIM or in Gene2Phenotype.

This gene can be promoted to green rating in the next GMS update.
Intellectual disability v7.7 RBBP5 Achchuthan Shanmugasundram Gene: rbbp5 has been classified as Amber List (Moderate Evidence).
Intellectual disability v7.7 RBBP5 Achchuthan Shanmugasundram Classified gene: RBBP5 as Amber List (moderate evidence)
Intellectual disability v7.7 RBBP5 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, PMID:39036895 reported five unrelated cases with five different heterozygous RBBP5 variants, of which four patients had developmental delay and intellectual disability (3 with severe ID and one with mild ID).

This gene has not yet been associated with relevant phenotypes wither in OMIM or in Gene2Phenotype.

This gene can be promoted to green rating in the next GMS update.
Intellectual disability v7.7 RBBP5 Achchuthan Shanmugasundram Gene: rbbp5 has been classified as Amber List (Moderate Evidence).
Intellectual disability v7.6 RBBP5 Achchuthan Shanmugasundram Phenotypes for gene: RBBP5 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v7.6 RBBP5 Achchuthan Shanmugasundram Phenotypes for gene: RBBP5 were changed from neurodevelopmental disorder MONDO:0700092, RBBP5-related to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v7.5 RBBP5 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RBBP5.
Intellectual disability v7.5 RBBP5 Achchuthan Shanmugasundram reviewed gene: RBBP5: Rating: GREEN; Mode of pathogenicity: None; Publications: 39036895; Phenotypes: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v6.77 RBBP5 Zornitza Stark gene: RBBP5 was added
gene: RBBP5 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: RBBP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RBBP5 were set to 39036895
Phenotypes for gene: RBBP5 were set to neurodevelopmental disorder MONDO:0700092, RBBP5-related
Review for gene: RBBP5 was set to GREEN
Added comment: Five individuals reported, four of whom had de novo variants. Four had DD/ID; other more variable features included short stature, microcephaly, SNHL, seizures and hypotonia.
Sources: Literature