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Intellectual disability syndromic and non-syndromic

Gene: CBX1

Green List (high evidence)

CBX1 (chromobox 1)
EnsemblGeneIds (GRCh38): ENSG00000108468
EnsemblGeneIds (GRCh37): ENSG00000108468
OMIM: 604511, Gene2Phenotype
CBX1 is in 2 panels

1 review

Daniel Flanagan (Victorian Clinical Genetics Services)

Green List (high evidence)

Three different de novo missense variants identified in three unrelated individuals with developmental delay, hypotonia, autistic features, and variable dysmorphic features such as broad forehead and head circumference above average. Mutant mice displayed increased latency-to-peak response, suggesting the possibility of synaptic delay or myelination deficits. Functional studies confirmed the reduction of mutant HP1β binding to heterochromatin.
Sources: Expert list
Created: 4 May 2023, 2:46 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder (MONDO#0700092), CBX1-related

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder (MONDO#0700092), CBX1-related
OMIM
604511
Clinvar variants
Variants in CBX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 May 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cbx1 has been classified as Green List (High Evidence).

4 May 2023, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: cbx1 has been classified as Green List (High Evidence).

4 May 2023, Gel status: 0

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

Daniel Flanagan (Victorian Clinical Genetics Services)

gene: CBX1 was added gene: CBX1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list Mode of inheritance for gene: CBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CBX1 were set to PMID: 37087635 Phenotypes for gene: CBX1 were set to Neurodevelopmental disorder (MONDO#0700092), CBX1-related Review for gene: CBX1 was set to GREEN