Repeat Disorders
STR: FRA11BGRCh37 Position: 119076999-119077032
GRCh38 Position: 119206289-119206322
Repeated Sequence: CCG
Normal Number of Repeats: < 79
Pathogenic Number of Repeats: = or > 101
CBL (Cbl proto-oncogene)
EnsemblGeneIds (GRCh38): ENSG00000110395
EnsemblGeneIds (GRCh37): ENSG00000110395
OMIM: 165360, Gene2Phenotype
CBL is in 0 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: Low evidence of clinical relevance of expression of the fragile site.Created: 6 Sep 2021, 7:43 a.m. | Last Modified: 6 Sep 2021, 7:43 a.m.
Panel Version: 0.135
FRA11B is a rare folate sensitive fragile site caused by expansion of (CCG)n in the 5'UTR of CBL, and hypermethylation of adjacent CpG islands. There are commonly 11 repeats. The pre-mutation ranges from 80-100, while >100 leads to expression of the fragile site. Two cases of Jacobsen (llq-) syndrome, which is the clinical presentation of the loss of part of the long arm of chromosome 11, have been associated with the FRA11B repeat expansion (expected breakpoint). The estimated prevalence of the FRA11B expansion is 1 in 5,000, which the estimated prevalence of Jacobsen syndrome is <1 in 100,000.
Sources: LiteratureCreated: 6 Sep 2021, 7:41 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Jacobsen syndrome MIM#147791
Publications
Details
- Name
- FRA11B
- Chromosome
- 11
- GRCh37 Coordinates
- 119076999-119077032
- GRCh38 Coordinates
- 119206289-119206322
- Repeated Sequence
- CCG
- Normal Number of Repeats: <
- 79
- Pathogenic Number of Repeats: = or >
- 101
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Jacobsen syndrome MIM#147791
- Tags
- OMIM
- 165360
- Clinvar variants
- Variants in CBL
- Penetrance
- None
- Publications
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Str: fra11b has been classified as Red List (Low Evidence).
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag paediatric-onset tag was added to STR: FRA11B.
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: fra11b has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)STR: FRA11B was added STR: FRA11B was added to Repeat Disorders. Sources: Literature Mode of inheritance for STR: FRA11B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: FRA11B were set to 7881408; 7603564; 9508241; 9927483; 10767345; 11076037; 19267933 Phenotypes for STR: FRA11B were set to Jacobsen syndrome MIM#147791 Review for STR: FRA11B was set to AMBER