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  3. SMOC1
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Skeletal dysplasia

Gene: SMOC1

Green List (high evidence)
SMOC1 (SPARC related modular calcium binding 1)
EnsemblGeneIds (GRCh38): ENSG00000198732
EnsemblGeneIds (GRCh37): ENSG00000198732
OMIM: 608488, Gene2Phenotype
SMOC1 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Five unrelated families reported with bi-allelic variants in this gene and ocular abnormalities (microphtalmia or anophtalmia) and limb anomalies (oligodactyly, syndactyly, and synostosis of the 4th and 5th metacarpals), variably associated with long bone hypoplasia, horseshoe kidney, venous anomalies, vertebral anomalies, developmental delay, and intellectual disability.
Created: 27 Dec 2020, 5:03 a.m. | Last Modified: 27 Dec 2020, 5:03 a.m.
Panel Version: 0.5813

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microphthalmia with limb anomalies, MIM# 206920

Publications

Created: 27 Dec 2020, 5:03 a.m.
Last Modified: 27 Dec 2020, 5:03 a.m.
Panel version: Imported from Mendeliome panel version 0.5813

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert Review
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Ophthalmo-acromelic syndrome
  • Polydactyly
  • Microphthalmia with limb anomalies 206920
OMIM
608488
Clinvar variants
Variants in SMOC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SMOC1 was added gene: SMOC1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review,Expert Review Green Mode of inheritance for gene: SMOC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMOC1 were set to 21194680; 21194678 Phenotypes for gene: SMOC1 were set to Ophthalmo-acromelic syndrome; Polydactyly; Microphthalmia with limb anomalies 206920