Intellectual disability
Gene: RBL2

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

3 reviews

Mike Spiller (Sheffield Children's Hospital)

Green List (high evidence)

OMIM Morbid gene for autosomal recessive Brunet-Wagner neurodevelopmental syndrome. Evidence from two publications PMID: 32105419; PMID: 33980986, 5 affected individuals (from 3 families) homozygous for loss of function variants in RBL2. All tested unaffected relatives are heterozygous or WT.

Consistent but non specific phenotype of severe developmental delay, ID and hypotonia. Strabismus/nystagmus also common. Seizures and microcephaly recorded in some.

Functional studies uninformative.

(Note - 3 100k patients (2 families) on CVA also homozygous for likely LOF variants with consistent phenotype)
Created: 26 Oct 2023, 7:56 a.m. | Last Modified: 26 Oct 2023, 7:56 a.m.

Panel Version: 5.318

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

PMID: 32105419
PMID: 33980986

Created: 26 Oct 2023, 7:56 a.m.
Last Modified: 26 Oct 2023, 7:56 a.m.
Panel version: 5.318

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 3 May 2024, 11:55 a.m. | Last Modified: 3 May 2024, 11:55 a.m.

Panel Version: 6.11

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 2 Nov 2023, 1:02 p.m. | Last Modified: 2 Nov 2023, 1:02 p.m.

Panel Version: 5.326

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).
Created: 2 Nov 2023, 1:01 p.m. | Last Modified: 2 Nov 2023, 1:01 p.m.

Panel Version: 5.325

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 30 Jun 2020, 2:20 p.m.
Last Modified: 30 Jun 2020, 2:20 p.m.
Panel version: 6.11

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

Created: 4 Jun 2020, 11:27 a.m.

Panel version: 3.80

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green

Phenotypes

Brunet-Wagner neurodevelopmental syndrome, OMIM:619690

OMIM

180203

Clinvar variants

Variants in RBL2

Penetrance

None

Publications

Panels with this gene

Intellectual disability

History Filter Activity

3 May 2024, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green was removed from gene: RBL2. Tag Q4_23_NHS_review was removed from gene: RBL2.

3 May 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to RBL2. Source NHS GMS was added to RBL2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

2 Nov 2023, Gel status: 2