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Repeat Disorders

STR: FRAXE

Green List (high evidence)
Chromosome: X
GRCh37 Position: 147582158-147582202
GRCh38 Position: 148500638-148500682
Repeated Sequence: GCC
Normal Number of Repeats: < 44
Pathogenic Number of Repeats: = or > 200

AFF2 (AF4/FMR2 family member 2)
EnsemblGeneIds (GRCh38): ENSG00000155966
EnsemblGeneIds (GRCh37): ENSG00000155966
OMIM: 300806, Gene2Phenotype
AFF2 is in 0 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

NM_001169122.1(AFF2):c.-460_-458GCC(6_25)
Loss of function through methylation silencing is the mechanism of disease
Normal - 5-44 repeats
Inconclusive - 45-54 repeats
Premutation - 55-200 repeats
Abnormal - >200 or >230 repeats
Sources: Expert list
Created: 15 Aug 2021, 11:55 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Intellectual developmental disorder, X-linked 109 MIM#309548

Publications

Clinically Relevant

Interruptions in the repeated sequence are reported as part of standard diagnostic practise

Created: 15 Aug 2021, 11:55 p.m.

Panel version: 0.52

Details

Name
FRAXE
Chromosome
X
GRCh37 Coordinates
147582158-147582202
GRCh38 Coordinates
148500638-148500682
Repeated Sequence
GCC
Normal Number of Repeats: <
44
Pathogenic Number of Repeats: = or >
200
Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Intellectual developmental disorder, X-linked 109 MIM#309548
Tags
paediatric-onset
OMIM
300806
Clinvar variants
Variants in AFF2
Penetrance
None
Publications

History Filter Activity

1 Sep 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: fraxe has been classified as Green List (High Evidence).

15 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: fraxe has been classified as Green List (High Evidence).

15 Aug 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

STR: FRAXE was added STR: FRAXE was added to Repeat Disorders. Sources: Expert list Mode of inheritance for STR: FRAXE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for STR: FRAXE were set to 8334699; 8673085; 11388762 Phenotypes for STR: FRAXE were set to Intellectual developmental disorder, X-linked 109 MIM#309548 Review for STR: FRAXE was set to GREEN STR: FRAXE was marked as clinically relevant