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  2. Cerebellar and Pontocerebellar Hypoplasia
  3. RBL2
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Cerebellar and Pontocerebellar Hypoplasia

Gene: RBL2

Red List (low evidence)
RBL2 (RB transcriptional corepressor like 2)
EnsemblGeneIds (GRCh38): ENSG00000103479
EnsemblGeneIds (GRCh37): ENSG00000103479
OMIM: 180203, Gene2Phenotype
RBL2 is in 5 panels

2 reviews

Alison Yeung (Victorian Clinical Genetics Services)

Comment on list classification: pontocerebellar hypoplasia not a consistent feature
Created: 2 Feb 2022, 12:04 a.m. | Last Modified: 2 Feb 2022, 12:04 a.m.
Panel Version: 1.45
Created: 2 Feb 2022, 12:04 a.m.
Last Modified: 2 Feb 2022, 12:04 a.m.
Panel version: 1.45

Elena Savva (Victorian Clinical Genetics Services)

I don't know

PMID: 33980986: 2 unrelated patients (3 total) with infantile hypotonia, severe developmental delay and microcephaly. Functional studies on patient fibroblasts supports loss of protein and mRNA expression. Patients were homozygous for a PTC, and a CNV (exon 4-5 del)

PMID: 32105419: affecting siblings with severe intellectual disability, stereotypies and dysmorphic features. Chet PTC/CNV (exon 13-17 del).

3 unrelated families - 2/3 corpus callosum hypoplasia/cerebral atrophy, 2/3 epilepsy, 2/3 microcephaly

PMID: 9806916: mouse model in support
Sources: Literature
Created: 1 Feb 2022, 11:29 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Severe motor and cognitive impairment; Intellectual disability; Brunet-Wagner neurodevelopmental syndrome MIM#619690

Publications

Created: 1 Feb 2022, 11:29 p.m.

Panel version: 1.43

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Severe motor and cognitive impairment
  • Intellectual disability
  • Brunet-Wagner neurodevelopmental syndrome MIM#619690
OMIM
180203
Clinvar variants
Variants in RBL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

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

2 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

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

1 Feb 2022, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

gene: RBL2 was added gene: RBL2 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature Mode of inheritance for gene: RBL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RBL2 were set to PMID: 33980986; 32105419; 9806916 Phenotypes for gene: RBL2 were set to Severe motor and cognitive impairment; Intellectual disability; Brunet-Wagner neurodevelopmental syndrome MIM#619690 Review for gene: RBL2 was set to AMBER