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Intellectual disability

STR: AFF3_GGC

Red List (low evidence)

Chromosome: 2
GRCh38 Position: 100104798-100104824
Repeated Sequence: GGC
Normal Number of Repeats: < 0
Pathogenic Number of Repeats: = or > 0

AFF3 (AF4/FMR2 family member 3)
EnsemblGeneIds (GRCh38): ENSG00000144218
EnsemblGeneIds (GRCh37): ENSG00000144218
OMIM: 601464, Gene2Phenotype
AFF3 is in 0 panels

3 reviews

Eleanor Williams (Genomics England Curator)

To align with other STRs within PanelApp, the STR name AFF3_GCC was changed to AFF3_GGC and the repeat sequence has been changed from GCC to GGC in March 2025.
Created: 19 Nov 2025, 9:14 p.m. | Last Modified: 19 Nov 2025, 9:14 p.m.
Panel Version: 9.186
The gene is on the reverse strand. The repeat sequence for this STR should be GGC . It currently represents the forward strand from the reference genome rather than the coding strand which is the usual format for STRs in PanelApp.
Created: 16 Feb 2025, 11:56 a.m. | Last Modified: 16 Feb 2025, 11:56 a.m.
Panel Version: 8.84

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

The genomic coordinates of the AFF3_GCC repeat expansion is not available. The number of normal and pathogenic repeats have not been established either.
Created: 19 Nov 2024, 10:49 a.m. | Last Modified: 19 Nov 2024, 10:49 a.m.
Panel Version: 8.38
Comment on list classification: This STR is rated as red, because it is not yet NGS validated.
Created: 18 Nov 2024, 5:42 p.m. | Last Modified: 18 Nov 2024, 5:42 p.m.
Panel Version: 8.36

Riyaad Aungraheeta (Bristol Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Details

Name
AFF3_GGC
Chromosome
2
GRCh38 Coordinates
100104798-100104824
Repeated Sequence
GGC
Normal Number of Repeats: <
0
Pathogenic Number of Repeats: = or >
0
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • neurodevelopmental disorder unspecified
Tags
STR NGS Not Validated
OMIM
601464
Clinvar variants
Variants in AFF3
Penetrance
Incomplete
Publications

History Filter Activity

5 Mar 2025, Gel status: 1

Changed STR Name, Changed Repeated Sequence

Sarah Leigh (Genomics England Curator)

AFF3_GCC was changed to AFF3_GGC Repeated Sequence for AFF3_GGC was changed from GCC to GGC.

19 Nov 2024, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for STR: AFF3_GCC were changed from to neurodevelopmental disorder unspecified

19 Nov 2024, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for STR: AFF3_GCC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

18 Nov 2024, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Str: aff3_gcc has been classified as Red List (Low Evidence).

18 Nov 2024, Gel status: 0

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag STR tag was added to STR: AFF3_GCC. Tag NGS Not Validated tag was added to STR: AFF3_GCC.

12 Nov 2024, Gel status: 0

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag NGS Not Validated was removed from STR: AFF3_GCC.

12 Nov 2024, Gel status: 0

Added Tag

Sarah Leigh (Genomics England Curator)

Tag NGS Not Validated tag was added to STR: AFF3_GCC.

12 Nov 2024, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Gene was set to AFF3.

12 Nov 2024, Gel status: 0

Changed STR Name, Removed Source, Added New Source, Set publications

Arina Puzriakova (Genomics England Curator)

AFF3 was changed to AFF3_GCC Source Literature was removed from STR: AFF3_GCC. Source Expert Review was added to STR: AFF3_GCC. Publications for STR: AFF3_GCC were updated from PMID: 39313615 to 39313615

11 Nov 2024, Gel status: 0

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

Riyaad Aungraheeta (Bristol Genetics Laboratory)

STR: AFF3 was added STR: AFF3 was added to Intellectual disability. Sources: Literature Mode of inheritance for STR: AFF3 was set to Unknown Publications for STR: AFF3 were set to PMID: 39313615 Penetrance for STR: AFF3 were set to Incomplete Review for STR: AFF3 was set to GREEN