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Repeat Disorders
STR: FRA11A

Chromosome: 11
GRCh37 Position: 66512291-66512316
GRCh38 Position: 66744820-66744845
Repeated Sequence: CGG
Normal Number of Repeats: < 11
Pathogenic Number of Repeats: = or > 500

C11orf80 (chromosome 11 open reading frame 80)
EnsemblGeneIds (GRCh38): ENSG00000173715
EnsemblGeneIds (GRCh37): ENSG00000173715
OMIM: 616109, Gene2Phenotype
C11orf80 is in 0 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Expansion of a polymorphic CGG-repeat located at the 5' end of the C11orf80 gene causes expression of the folate-sensitive fragile site FRA11A. The CGG-repeat elongation coincides with hypermethylation of the adjacent CpG island and subsequent transcriptional silencing of the C11orf80 gene. The expansion was identified in the 15-year-old proband with intellectual disability as well as in phenotypically normal members of the family.
Sources: Literature
Created: 7 Sep 2021, 12:31 a.m.

Mode of inheritance
Unknown

Phenotypes
Intellectual disability

Publications

18160775
453198

Created: 7 Sep 2021, 12:31 a.m.

Panel version: 0.139

Details

Name

FRA11A

Chromosome

GRCh37 Coordinates

66512291-66512316

GRCh38 Coordinates

66744820-66744845

Repeated Sequence

CGG

Normal Number of Repeats: <

Pathogenic Number of Repeats: = or >

500

Mode of Inheritance

Unknown

Sources

Expert Review Red
Literature

Phenotypes

Intellectual disability

Tags

paediatric-onset

OMIM

616109

Clinvar variants

Variants in C11orf80

Penetrance

None

Publications

18160775
453198

History Filter Activity

10 Sep 2021, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag paediatric-onset tag was added to STR: FRA11A.

7 Sep 2021, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: fra11a has been classified as Red List (Low Evidence).