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Fetal anomalies

Gene: SMCHD1

Green List (high evidence)

SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000101596
EnsemblGeneIds (GRCh37): ENSG00000101596
OMIM: 614982, Gene2Phenotype
SMCHD1 is in 6 panels

2 reviews

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Well reported in patients with the associated phenotype characterized by complete absence of the nose with or without ocular defects, caused by gain of function missense variants with the extended ATPase domain.
Created: 1 Jul 2020, 6:43 a.m. | Last Modified: 1 Jul 2020, 6:43 a.m.
Panel Version: 0.59

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Bosma arhinia microphthalmia syndrome (MIM#603457)

Publications

Mode of pathogenicity
Other

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

no ID as part of phenotype.
Created: 10 Dec 2019, 10:41 p.m. | Last Modified: 10 Dec 2019, 10:41 p.m.
Panel Version: 0.1231

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Bosma arhinia microphthalmia syndrome, OMIM #603457; Fascioscapulohumeral muscular dystrophy 2, digenic; OMIM #158901

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert list
Phenotypes
  • Bosma arhinia microphthalmia syndrome (MIM#603457)
OMIM
614982
Clinvar variants
Variants in SMCHD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: smchd1 has been classified as Green List (High Evidence).

3 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SMCHD1 were changed from Isolated Arhinia/Bosma Arhinia syndrome to Bosma arhinia microphthalmia syndrome (MIM#603457)

3 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SMCHD1 were set to

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SMCHD1 was added gene: SMCHD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SMCHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SMCHD1 were set to Isolated Arhinia/Bosma Arhinia syndrome