Intellectual disability
STR: AFF2_GCC

Chromosome: X
GRCh38 Position: 148500631-148500691
Repeated Sequence: GCC
Normal Number of Repeats: < 25
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

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

AFF2 transcribed from the forwards strand, which means that the repeated sequence is the forward strand sequence.

AFF2_GCC is on https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r3

AFF2_GCC is on https://stripy.org/database

AFF2_GCC is on DRAGON 4.02.

The coordinates and pathogenic ranges of the sequence repeats were obtained from
https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r3 and DRAGON 4.02/

There is enough evidence for this STR to be green on this panel.

This STR has not been approved by NHS STR working group and is not NGS Not Validated
Sources: Literature
Created: 19 Mar 2025, 3:18 p.m.

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

Phenotypes
Intellectual developmental disorder, X-linked 109, OMIM:309548; FRAXE intellectual disability, MONDO:0010659

Publications

Created: 19 Mar 2025, 3:18 p.m.

Panel version: 8.163

Details

Name

AFF2_GCC

Chromosome

GRCh38 Coordinates

148500631-148500691

Repeated Sequence

GCC

Normal Number of Repeats: <

Pathogenic Number of Repeats: = or >

200

Mode of Inheritance

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

Sources

Literature

Phenotypes

Intellectual developmental disorder, X-linked 109, OMIM:309548
FRAXE intellectual disability, MONDO:0010659

Tags

STR NGS Not Validated

OMIM

300806

Clinvar variants

Variants in AFF2

Penetrance

None

Publications

History Filter Activity

19 Mar 2025, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

STR: AFF2_GCC was added STR: AFF2_GCC was added to Intellectual disability. Sources: Literature STR, NGS Not Validated tags were added to STR: AFF2_GCC. Mode of inheritance for STR: AFF2_GCC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for STR: AFF2_GCC were set to 8334699; 8023854; 21739600; 9299237; 11171404; 11923441; 19136466; 2356291 Phenotypes for STR: AFF2_GCC were set to Intellectual developmental disorder, X-linked 109, OMIM:309548; FRAXE intellectual disability, MONDO:0010659 Review for STR: AFF2_GCC was set to GREEN

Intellectual disability STR: AFF2_GCC