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DDG2P

Gene: AFF3

Green List (high evidence)
AFF3 (AF4/FMR2 family member 3)
EnsemblGeneIds (GRCh38): ENSG00000144218
EnsemblGeneIds (GRCh37): ENSG00000144218
OMIM: 601464, Gene2Phenotype
AFF3 is in 5 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for AFF3-related KINSSHIP syndrome are strong, monoallelic_autosomal and undetermined (PMIDs: 33961779, 36576140, 38811945). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01978. The DDG2P confidence category, allelic requirement and molecular mechanism for AFF3-related intellectual disability are moderate, monoallelic_autosomal and undetermined (PMID:38811945). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03581.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease AFF3-related intellectual disability is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and decreased gene product level. It shows incomplete penetrance (PMID: 38811945). The DDG2P confidence category for the disease AFF3-related KINSSHIP syndrome, OMIM:619297 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 33961779;36576140;38811945).
Created: 21 Feb 2025, 2:39 p.m. | Last Modified: 21 Feb 2025, 9:49 p.m.
Panel Version: 5.44
The DDG2P confidence category for the disease Skeletal dysplasia with severe neurological disease is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 33961779;36576140).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

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

Phenotypes
AFF3-related intellectual disability; MONDO:0001071; AFF3-related KINSSHIP syndrome, OMIM:619297; AFF3-related KINSSHIP syndrome; OMIM:619297.0; MONDO:0851095

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 21 Feb 2025, 9:49 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: probable. DDG2P mode of pathogenicity: all missense/in frame
Created: 19 Nov 2018, 11:29 a.m.
Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • AFF3-related KINSSHIP syndrome, OMIM:619297
  • AFF3-related intellectual disability
OMIM
601464
Clinvar variants
Variants in AFF3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: AFF3 was changed from Other to None

21 Feb 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: AFF3 were changed from Skeletal dysplasia with severe neurological disease to AFF3-related KINSSHIP syndrome, OMIM:619297; AFF3-related intellectual disability

21 Feb 2025, Gel status: 3

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: AFF3 were set to 36576140; 33961779; 100000

4 Oct 2023, Gel status: 3

Added New Source, Set mode of pathogenicity, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to AFF3. Mode of pathogenicity for gene AFF3 was changed from Other - please provide details in the comments to Other Publications for gene: AFF3 were updated from 100000 to 36576140; 33961779; 100000 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: AFF3 was added gene: AFF3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: AFF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AFF3 were set to 100000 Phenotypes for gene: AFF3 were set to Skeletal dysplasia with severe neurological disease Mode of pathogenicity for gene: AFF3 was set to Other - please provide details in the comments