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Mendeliome

Gene: SMOC2

Green List (high evidence)

SMOC2 (SPARC related modular calcium binding 2)
EnsemblGeneIds (GRCh38): ENSG00000112562
EnsemblGeneIds (GRCh37): ENSG00000112562
OMIM: 607223, Gene2Phenotype
SMOC2 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated families reported with oligodontia, microdontia, tooth root deficiencies, alveolar bone hypoplasia, and a range of skeletal malformations. Mouse model: germline Smoc2 homozygous mutants are viable, but have tooth number anomalies, reduced tooth size, altered enamel prism patterning, and spontaneous age-induced periodontal bone and root loss.
Created: 19 Sep 2020, 10:14 p.m. | Last Modified: 19 Sep 2020, 10:14 p.m.
Panel Version: 0.4510

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dentin dysplasia, type I, with microdontia and misshapen teeth, MIM# 125400

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dentin dysplasia, type I, with microdontia and misshapen teeth, MIM# 125400
OMIM
607223
Clinvar variants
Variants in SMOC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: smoc2 has been classified as Green List (High Evidence).

19 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SMOC2 were changed from to Dentin dysplasia, type I, with microdontia and misshapen teeth, MIM# 125400

19 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SMOC2 were set to

19 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SMOC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SMOC2 was added gene: SMOC2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SMOC2 was set to Unknown