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  2. Mackenzie's Mission_Reproductive Carrier Screening
  3. AFF2
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Mackenzie's Mission_Reproductive Carrier Screening

Gene: AFF2

Red List (low evidence)
AFF2 (AF4/FMR2 family member 2)
EnsemblGeneIds (GRCh38): ENSG00000155966
EnsemblGeneIds (GRCh37): ENSG00000155966
OMIM: 300806, Gene2Phenotype
AFF2 is in 6 panels

1 review

Sarah Righetti (University of New South Wales)

Mechanism of disease is triplet repeat expansion. FRAXE less severe and much rarer than FRAXA. Excluded from MM screening panel on technical grounds.
Sources: Expert Review
Created: 20 Oct 2020, 10 p.m.

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

Phenotypes
Mental retardation, X-linked, FRAXE type, #309548

Created: 20 Oct 2020, 10 p.m.

Panel version: 0.32

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
Phenotypes
  • Mental retardation, X-linked, FRAXE type, #309548
OMIM
300806
Clinvar variants
Variants in AFF2
Penetrance
None
Panels with this gene

History Filter Activity

29 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: aff2 has been classified as Red List (Low Evidence).

29 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: aff2 has been classified as Red List (Low Evidence).

20 Oct 2020, Gel status: 0

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

Sarah Righetti (University of New South Wales)

gene: AFF2 was added gene: AFF2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review Mode of inheritance for gene: AFF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AFF2 were set to Mental retardation, X-linked, FRAXE type, #309548