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Intellectual_disability

Gene: AFF2

Green List (high evidence)
AFF2 (AF4/FMR2 family member 2)
EnsemblGeneIds (GRCh38): ENSG00000155966
EnsemblGeneIds (GRCh37): ENSG00000155966
OMIM: 300806, Gene2Phenotype
AFF2 is in 3 panels

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Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Known gene (Grozeva et al, 2015)
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Known gene (Grozeva et al, 2015)
  • UKGTN
Phenotypes
  • Mental retardation, X-linked, FRAXE type, 309548
  • FRAXE Syndrome
  • Intellectual disability
Tags
nucleotide-repeat-expansion
OMIM
300806
Clinvar variants
Variants in AFF2
Penetrance
Complete
Panels with this gene

History Filter Activity

21 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

AFF2 was added to Intellectual_disabilitypanel. Source: Radboud University Medical Center, Nijmegen

8 Oct 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene AFF2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

8 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

AFF2 was added to Intellectual_disabilitypanel. Source: Known gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene AFF2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

8 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

AFF2 was added to Intellectual_disabilitypanel. Source: Radboud University Medical Center, Nijmegen

8 Oct 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene AFF2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

8 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

AFF2 was added to Intellectual_disabilitypanel. Source: UKGTN

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

AFF2 was added to Intellectual_disabilitypanel. Sources: Emory Genetics Laboratory,UKGTN,Radboud University Medical Center, Nijmegen