Anophthalmia_Microphthalmia_Coloboma
Gene: SMOC1

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, 5:02 a.m. | Last Modified: 27 Dec 2020, 5:02 a.m.

Panel Version: 0.115

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microphthalmia with limb anomalies, MIM# 206920

Publications

Created: 27 Dec 2020, 5:02 a.m.
Last Modified: 27 Dec 2020, 5:02 a.m.
Panel version: 0.115

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Microphthalmia with limb anomalies, MIM# 206920

OMIM

608488

Clinvar variants

Variants in SMOC1

Penetrance

None

Publications

Panels with this gene