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Anophthalmia_Microphthalmia_Coloboma
Gene: SMCHD1

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

1 review

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

Created: 1 Jul 2020, 6:43 a.m.
Last Modified: 1 Jul 2020, 6:43 a.m.
Panel version: 0.59

Details

Mode of Inheritance

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

OMIM

Clinvar variants

Variants in SMCHD1

Penetrance

None

Publications

Mode of Pathogenicity

Other

Panels with this gene

History Filter Activity

26 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SMCHD1 were changed from Bosma arhinia microphthalmia syndrome (MIM#603457) to Bosma arhinia microphthalmia syndrome (MIM#603457); Arhinia, choanal atresia, microphthalmia MONDO:0011323

24 Dec 2020, 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).

24 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SMCHD1 were set to

24 Dec 2020, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: SMCHD1 was changed from to Other

24 Dec 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SMCHD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SMCHD1 was added gene: SMCHD1 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SMCHD1 was set to Unknown