Repeat Disorders
STR: FRAXF
Chromosome: X
GRCh37 Position: 148713390-148713437
GRCh38 Position: 149631714-149631781
Repeated Sequence: GCC
Normal Number of Repeats: < 29
Pathogenic Number of Repeats: = or > 900
TMEM185A (transmembrane protein 185A)
OMIM: 300031, Gene2Phenotype
TMEM185A is in 0 panels
GRCh37 Position: 148713390-148713437
GRCh38 Position: 149631714-149631781
Repeated Sequence: GCC
Normal Number of Repeats: < 29
Pathogenic Number of Repeats: = or > 900
TMEM185A (transmembrane protein 185A)
OMIM: 300031, Gene2Phenotype
TMEM185A is in 0 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
FRAXF is a folate-sensitive fragile site, where expansion was identified in a male with developmental delay. However, further studies found that expression of the fragile site through expansion is not associated with a disease phenotype.
Sources: LiteratureCreated: 6 Sep 2021, 11:08 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Intellectual disability
Publications
Details
- Name
- FRAXF
- Chromosome
- X
- GRCh37 Coordinates
- 148713390-148713437
- GRCh38 Coordinates
- 149631714-149631781
- Repeated Sequence
- GCC
- Normal Number of Repeats: <
- 29
- Pathogenic Number of Repeats: = or >
- 900
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Intellectual disability
- Tags
- OMIM
- 300031
- Clinvar variants
- Variants in TMEM185A
- Penetrance
- None
- Publications
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: FRAXF.
6 Sep 2021, Gel status: 1
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: fraxf has been classified as Red List (Low Evidence).
6 Sep 2021, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)STR: FRAXF was added STR: FRAXF was added to Repeat Disorders. Sources: Literature Mode of inheritance for STR: FRAXF was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for STR: FRAXF were set to 7874164; 10094554; 8651274 Phenotypes for STR: FRAXF were set to Intellectual disability Review for STR: FRAXF was set to RED