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DDG2P

Gene: AFF2

Green List (high evidence)

AFF2 (AF4/FMR2 family member 2)
EnsemblGeneIds (GRCh38): ENSG00000155966
EnsemblGeneIds (GRCh37): ENSG00000155966
OMIM: 300806, Gene2Phenotype
AFF2 is in 5 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease FRAGILE X-E INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME, OMIM:309548 is definitive. The allelic requirement and mutation consequence are monoallelic_X_hem and absent gene product (PMIDs: 21739600;8334699).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

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

Phenotypes
FRAGILE X-E INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME, OMIM:309548

Publications

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed.
Created: 19 Nov 2018, 11:29 a.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FRAGILE X-E MENTAL RETARDATION SYNDROME 309548
OMIM
300806
Clinvar variants
Variants in AFF2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Oct 2023, Gel status: 3

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: AFF2 were updated from 21739600; 8334699 to 8334699; 21739600

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: AFF2 was added gene: AFF2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AFF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: AFF2 were set to 21739600; 8334699 Phenotypes for gene: AFF2 were set to FRAGILE X-E MENTAL RETARDATION SYNDROME 309548