Structural eye disease
Gene: SMCHD1EnsemblGeneIds (GRCh38): ENSG00000101596
EnsemblGeneIds (GRCh37): ENSG00000101596
OMIM: 614982, Gene2Phenotype
SMCHD1 is in 8 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
FC - ocular phenotypes such as microphthalmia or coloboma can be part of the clinical presentation of this syndrome and this is also supported by the zebrafish model. Shaw et al., 2017: Ocular phenotypes included anophthalmia or microphthalmia (77%), uveal coloboma (79%) and cataract (53%), and six subjects had normal eye anatomy and vision.Created: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
ARHINIA, CHOANAL ATRESIA, AND MICROPHTHALMIA; 603457
Publications
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). FC - ocular phenotypes such as microphthalmia or coloboma can be part of the clinical presentation of this syndrome and this is also supported by the zebrafish model. Shaw et al., 2017: Ocular phenotypes included anophthalmia or microphthalmia (77%), uveal coloboma (79%) and cataract (53%), and six subjects had normal eye anatomy and vision.Created: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
ARHINIA, CHOANAL ATRESIA, AND MICROPHTHALMIA; 603457
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- ARHINIA, CHOANAL ATRESIA, AND MICROPHTHALMIA, 603457
- OMIM
- 614982
- Clinvar variants
- Variants in SMCHD1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: SMCHD1 was added gene: SMCHD1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SMCHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMCHD1 were set to 28067911; 28067909 Phenotypes for gene: SMCHD1 were set to ARHINIA, CHOANAL ATRESIA, AND MICROPHTHALMIA, 603457