SMCHD1

structural maintenance of chromosomes flexible hinge domain containing 1
OMIM: 614982, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green SMCHD1 in Anophthalmia_Microphthalmia_Coloboma Level 2: Ophthalmological disorders Version 1.50	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bosma arhinia microphthalmia syndrome (MIM#603457) Arhinia, choanal atresia, microphthalmia MONDO:0011323
Green SMCHD1 in Mendeliome Version 1.3512	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bosma arhinia microphthalmia syndrome, MIM 603457 Arhinia, choanal atresia, microphthalmia MONDO:0011323 Fascioscapulohumeral muscular dystrophy 2, digenic
Red SMCHD1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Bosma arhinia microphthalmia syndrome, OMIM #603457 Fascioscapulohumeral muscular dystrophy 2, digenic OMIM #158901
Green SMCHD1 in Limb-Girdle Muscular Dystrophy and Distal Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.63 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Facioscapulohumeral muscular dystrophy MONDO:0001347
Green SMCHD1 in Choanal atresia Level 2: Dysmorphic and congenital abnormality syndromes Version 1.6	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Bosma arhinia microphthalmia syndrome, MIM# 603457 Arhinia, choanal atresia, microphthalmia MONDO:0011323
Green SMCHD1 in Fetal anomalies Version 1.465	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes Bosma arhinia microphthalmia syndrome (MIM#603457)