Gene: SMCHD1

Alternate names for this Gene: BAMS|FSHD2

Gene Summary: This gene encodes a protein which contains a hinge region domain found in members of the SMC (structural maintenance of chromosomes) protein family.

Gene is located in Chromosome: 18

Location in Chromosome : 18p11.32

Description of this Gene: structural maintenance of chromosomes flexible hinge domain containing 1

Type of Gene: protein-coding

rs1057519639 in SMCHD1 gene and Anosmia PMID 28067909 2017 SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

rs1057519639 in SMCHD1 gene and Arhinia, choanal atresia, and microphthalmia PMID 28067909 2017 SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

PMID 29748383 2018 FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function.

PMID 28067911 2017 De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.

rs2347808 in SMCHD1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1135402740 in SMCHD1 gene and Cryptorchidism PMID 28067909 2017 SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

rs1057519643 in SMCHD1 gene and FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B PMID 28067909 2017 SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

PMID 23143600 2012 Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.

PMID 27059856 2016 The epigenetic regulator Smchd1 contains a functional GHKL-type ATPase domain.

PMID 24128691 2013 Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2.

PMID 24075187 2013 The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.

PMID 25256356 2015 Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.

PMID 29748383 2018 FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function.

PMID 28067911 2017 De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.

PMID 25370034 2015 Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1.

rs1057519642 in SMCHD1 gene and Short nose PMID 28067909 2017 SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

rs1135402740 in SMCHD1 gene and Small penis PMID 28067909 2017 SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

rs685958 in SMCHD1 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.