Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: SMCHD1
FSHD can have overlapping features with LGMD
Sources: Expert listCreated: 6 Jun 2022, 1:48 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Facioscapulohumeral muscular dystrophy MONDO:0001347
Publications
Variants in this GENE are reported as part of current diagnostic practice
Bosma arhinia microphthalmia syndrome (BAMS) is characterized by severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence. Choanal atresia is a feature. More than 30 unrelated individuals reported. Caused by gain of function missense variants with the extended ATPase domain.Created: 26 Mar 2021, 9:32 p.m. | Last Modified: 26 Mar 2021, 9:32 p.m.
Panel Version: 0.6908
Comment when marking as ready: Note association with FSHD2 is postulated to have digenic inheritance, caused by the combination of a heterozygous mutation in the SMCHD1 gene (614982) on chromosome 18p and presence of a haplotype on chromosome 4 that is permissive for DUX4 (606009) expression.Created: 20 Apr 2020, 8:52 a.m. | Last Modified: 20 Apr 2020, 8:52 a.m.
Panel Version: 0.2449
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Bosma arhinia microphthalmia syndrome, MIM# 603457; Arhinia, choanal atresia, microphthalmia MONDO:0011323
Publications
Mode of pathogenicity
Other
Seven probands with FSHD reported to have LP/P variants, which all predicted to disrupt the structure and conformation of SMCHD1.
No particular geno-pheno correlation, but location of missense variants within the ATPase domain of MSCHD1 may contribute to the differences in phenotypic outcome (PMID: 31243061)Created: 20 Apr 2020, 4:33 a.m. | Last Modified: 20 Apr 2020, 4:40 a.m.
Panel Version: 0.2383
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Bosma arhinia microphthalmia syndrome, MIM 603457; Fascioscapulohumeral muscular dystrophy 2, digenic
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: smchd1 has been classified as Green List (High Evidence).
Gene: smchd1 has been classified as Green List (High Evidence).
gene: SMCHD1 was added gene: SMCHD1 was added to Limb Girdle Muscular Dystrophy. Sources: Expert list Mode of inheritance for gene: SMCHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMCHD1 were set to 20301616 Phenotypes for gene: SMCHD1 were set to Facioscapulohumeral muscular dystrophy MONDO:0001347 Review for gene: SMCHD1 was set to GREEN gene: SMCHD1 was marked as current diagnostic