Repeat Disorders
STR: FRA12AGRCh37 Position: 50898787-50898807
GRCh38 Position: 50505004-50505024
Repeated Sequence: CGG
Normal Number of Repeats: < 23
Pathogenic Number of Repeats: = or > 280
DIP2B (disco interacting protein 2 homolog B)
EnsemblGeneIds (GRCh38): ENSG00000066084
EnsemblGeneIds (GRCh37): ENSG00000066084
OMIM: 611379, Gene2Phenotype
DIP2B 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 8-120 repeats, with a median of 8.Created: 29 Sep 2021, 8:05 a.m. | Last Modified: 29 Sep 2021, 8:05 a.m.
Panel Version: 0.148
NM_173602.2:c.-137CGG[X]
All individuals expressing FRA12A had CGG-repeat expansion. The length of the expanded allele in 3 unaffected FRA12A carriers was 650–850 bp. In the two affected patients from 2 families with FRA12A, the length of the expanded allele was ∼1,050-1,150 bp.
70 controls used to determine the "normal" repeat range.
Sources: LiteratureCreated: 7 Sep 2021, 12:54 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mental retardation, FRA12A type MIM#136630
Publications
Details
- Name
- FRA12A
- Chromosome
- 12
- GRCh37 Coordinates
- 50898787-50898807
- GRCh38 Coordinates
- 50505004-50505024
- Repeated Sequence
- CGG
- Normal Number of Repeats: <
- 23
- Pathogenic Number of Repeats: = or >
- 280
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Mental retardation, FRA12A type MIM#136630
- Tags
- OMIM
- 611379
- Clinvar variants
- Variants in DIP2B
- Penetrance
- None
- Publications
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag paediatric-onset tag was added to STR: FRA12A.
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: fra12a has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: fra12a 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: FRA12A was added STR: FRA12A was added to Repeat Disorders. Sources: Literature Mode of inheritance for STR: FRA12A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: FRA12A were set to 17236128 Phenotypes for STR: FRA12A were set to Mental retardation, FRA12A type MIM#136630 Review for STR: FRA12A was set to AMBER