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  2. Choanal atresia
  3. SMCHD1
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Choanal atresia

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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.
Sources: Expert list
Created: 26 Mar 2021, 9:28 p.m. | Last Modified: 26 Mar 2021, 9:30 p.m.
Panel Version: 0.23

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

Created: 26 Mar 2021, 9:28 p.m.
Last Modified: 26 Mar 2021, 9:30 p.m.
Panel version: 0.23

Details

Mode of Inheritance
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
OMIM
614982
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 mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: SMCHD1 was changed from None to Other

26 Mar 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).

26 Mar 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).

26 Mar 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SMCHD1 was added gene: SMCHD1 was added to Choanal atresia. 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 28067909 Phenotypes for gene: SMCHD1 were set to Bosma arhinia microphthalmia syndrome, MIM# 603457; Arhinia, choanal atresia, microphthalmia MONDO:0011323 Review for gene: SMCHD1 was set to GREEN