Repeat Disorders
STR: FRA2AGRCh37 Position: 100721262-100721285
GRCh38 Position: 100104800-100104823
Repeated Sequence: CGG
Normal Number of Repeats: < 20
Pathogenic Number of Repeats: = or > 300
AFF3 (AF4/FMR2 family member 3)
EnsemblGeneIds (GRCh38): ENSG00000144218
EnsemblGeneIds (GRCh37): ENSG00000144218
OMIM: 601464, Gene2Phenotype
AFF3 is in 0 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Bioinformatic analysis of 544 whole genomes from non-affected individuals demonstrated a range of 1-64 repeats, with a median of 16.Created: 29 Sep 2021, 8:09 a.m. | Last Modified: 29 Sep 2021, 8:09 a.m.
Panel Version: 0.148
Three families with a wide spectrum of neurodevelopmental phenotypes with expression of folate-sensitive fragile site FRA2A. The CGG repeat is in an alternative promoter for AFF3, active in the brain. Expansion of >300 repeats causes expression of FRA2A and is associated with hypermethylation and silencing of AFF3 in at least one individual. There were 3-20 repeats in normal controls.
Sources: LiteratureCreated: 7 Sep 2021, 9:50 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental delay
Publications
Details
- Name
- FRA2A
- Chromosome
- 2
- GRCh37 Coordinates
- 100721262-100721285
- GRCh38 Coordinates
- 100104800-100104823
- Repeated Sequence
- CGG
- Normal Number of Repeats: <
- 20
- Pathogenic Number of Repeats: = or >
- 300
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Neurodevelopmental delay
- Tags
- OMIM
- 601464
- Clinvar variants
- Variants in AFF3
- Penetrance
- None
- Publications
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag paediatric-onset tag was added to STR: FRA2A.
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: fra2a has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: fra2a has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)STR: FRA2A was added STR: FRA2A was added to Repeat Disorders. Sources: Literature Mode of inheritance for STR: FRA2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: FRA2A were set to 24763282 Phenotypes for STR: FRA2A were set to Neurodevelopmental delay Review for STR: FRA2A was set to AMBER