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Intellectual disability

Gene: RBL2

Red List (low evidence)

RBL2 (RB transcriptional corepressor like 2)
EnsemblGeneIds (GRCh38): ENSG00000103479
EnsemblGeneIds (GRCh37): ENSG00000103479
OMIM: 180203, Gene2Phenotype
RBL2 is in 1 panel

2 reviews

Sarah Leigh (Genomics England Curator)

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.
Created: 30 Jun 2020, 4:31 p.m. | Last Modified: 30 Jun 2020, 4:31 p.m.
Panel Version: 3.123

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Single family reported with pair of affected siblings. Supportive mouse model.
Sources: Literature
Created: 4 Jun 2020, 11:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
intellectual diability

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • intellectual diability
OMIM
180203
Clinvar variants
Variants in RBL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: rbl2 has been classified as Red List (Low Evidence).

30 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: rbl2 has been classified as Red List (Low Evidence).

30 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: rbl2 has been classified as Red List (Low Evidence).

4 Jun 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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