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Intellectual disability v5.313 RBSN Eleanor Williams commented on gene: RBSN
Intellectual disability v5.313 RBSN Eleanor Williams Tag gene-checked tag was added to gene: RBSN.
Intellectual disability v5.300 RBSN Arina Puzriakova Tag Q1_23_promote_green was removed from gene: RBSN.
Intellectual disability v5.286 RBSN Arina Puzriakova reviewed gene: RBSN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v5.286 RBSN Arina Puzriakova Source NHS GMS was added to RBSN.
Source Expert Review Green was added to RBSN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.96 RBSN Achchuthan Shanmugasundram changed review comment from: Comment on list classification: This gene should be rated GREEN as bi-allelic variants in RBSN has been associated with a phenotype encompassing developmental delay and intellectual disability from four unrelated families.

This gene has not been associated with any phenotypes either in OMIM or in Gene2Phenotype.; to: Comment on list classification: This gene should be rated GREEN as bi-allelic variants in RBSN has been associated with a phenotype encompassing developmental delay and intellectual disability from four unrelated families.

This gene has not yet been associated with any phenotypes either in OMIM or in Gene2Phenotype.
Intellectual disability v4.96 RBSN Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v4.96 RBSN Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: RBSN.
Intellectual disability v4.96 RBSN Achchuthan Shanmugasundram Classified gene: RBSN as Amber List (moderate evidence)
Intellectual disability v4.96 RBSN Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated GREEN as bi-allelic variants in RBSN has been associated with a phenotype encompassing developmental delay and intellectual disability from four unrelated families.

This gene has not been associated with any phenotypes either in OMIM or in Gene2Phenotype.
Intellectual disability v4.96 RBSN Achchuthan Shanmugasundram Gene: rbsn has been classified as Amber List (Moderate Evidence).
Intellectual disability v4.96 RBSN Achchuthan Shanmugasundram Classified gene: RBSN as Amber List (moderate evidence)
Intellectual disability v4.96 RBSN Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated GREEN as bi-allelic variants in RBSN has been associated with a phenotype encompassing developmental delay and intellectual disability from four unrelated families.

This gene has not been associated with any phenotypes either in OMIM or in Gene2Phenotype.
Intellectual disability v4.96 RBSN Achchuthan Shanmugasundram Gene: rbsn has been classified as Amber List (Moderate Evidence).
Intellectual disability v4.95 RBSN Achchuthan Shanmugasundram gene: RBSN was added
gene: RBSN was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: RBSN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBSN were set to 25233840; 29784638; 35652444
Phenotypes for gene: RBSN were set to intellectual disability, MONDO:0001071
Review for gene: RBSN was set to GREEN
Added comment: PMID:25233840 reported a 6.5 year old female patient with a homozygous missense variant c.1273G > A (p.Gly425Arg) and her clinical presentation included intractable seizures, developmental delay, microcephaly, dysostosis, osteopenia, craniofacial dysmorphism, macrocytosis and megaloblastoid erythropoiesis.

PMID:29784638 reported three siblings with homozygous variant c.289G>C (p.Gly97Arg) in RBSN. The proband presented global developmental delay, had complete 46,XY male-to-female sex reversal and died at age 20 months after multiple infections. The other 2 affected siblings underwent unrelated-donor bone marrow or stem cell transplantation at 8 and 6.5 months of age, respectively. Both have severe intellectual disability and are nonambulatory and nonverbal.

PMID:35652444 reported two unrelated families (three siblings from a family of Iranian descent identified with homozygous variant c.547G>A (p.Gly183Arg) and four members from a family of indigenous Cree descent identified with homozygous variant c.538C>G (p.Arg180Gly)) with overlapping phenotypes including developmental delay, intellectual disability, distal motor axonal neuropathy and facial dysmorphism.
Sources: Literature