SAMD11
Homo sapiens
Gene Name: sterile alpha motif domain containing 11
Aliases: MRS
Chromosome No: 1
Chromosome Band: 1p36.33
Genetic Category: Rare single gene variant
Aliases: MRS
Chromosome No: 1
Chromosome Band: 1p36.33
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 4
Recent Reports: 1
Annotated variants: 11
Associated CNVs: 6
Evidence score: 2
ASD Reports: 4
Recent Reports: 1
Annotated variants: 11
Associated CNVs: 6
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Linkage analysis and follow-up exome sequencing in seven large families with ASD identified a missense variant in the SAMD11 gene (rs200195897) that was transmitted to four affected individuals in one family (Chapman et al., 2015). Subsequent analysis of whole-genome sequencing data from individuals with ASD and family members in the MSSNG database replicated transmission of rs200195897 to four affected individuals in three additional families; this variant was also present in three singleton affected individuals and no unaffected individuals other than transmitting parents (Chapman et al., 2018).
Molecular Function
May play a role in photoreceptor development.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Whole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes.
ASD
Recent Recommendation
Replication of a rare risk haplotype on 1p36.33 for autism spectrum disorder.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN1050R001
missense_variant
c.877C>G
p.Pro293Ala
Familial
Extended multiplex
GEN1050R002
missense_variant
c.877C>G
p.Pro293Ala
Familial
Paternal
Multiplex
GEN1050R003
missense_variant
c.877C>G
p.Pro293Ala
Familial
Paternal
Simplex
GEN1050R004
missense_variant
c.877C>G
p.Pro293Ala
Familial
Maternal
Simplex
Common
No Common Variants Available
