FAM47A
Homo sapiens
Gene Name: family with sequence similarity 47 member A
Aliases:
Chromosome No: X
Chromosome Band: Xp21.1
Genetic Category: Rare single gene variant
Aliases:
Chromosome No: X
Chromosome Band: Xp21.1
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 1
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 10
Evidence score: 2
ASD Reports: 1
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 10
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
Maternally-inherited loss-of-function variants in the FAM47A gene were identified in two male ASD probands by whole genome sequencing as part of the MSSNG initiative in Yuen et al., 2017. Based on the discovery of multiple LoF variants and a probability of LoF intolerance rate (pLI) > 0.65, FAM47A was determined to be an ASD candidate gene in this report.
Molecular Function
This gene encodes a protein of unknown function.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN895R001a
frameshift_variant
c.1551_1588del
p.Glu520GlyfsTer65
Familial
Maternal
Simplex
GEN895R001b
frameshift_variant
c.1590del
p.Gly531ValfsTer50
Familial
Maternal
Simplex
GEN895R002a
frameshift_variant
c.1504_1540del
p.Ser502ArgfsTer67
Familial
Maternal
Simplex
GEN895R002b
frameshift_variant
c.1542_1543del
p.Ser515GlnfsTer82
Familial
Maternal
Simplex
Common
No Common Variants Available