Clefting
Gene: SMOC1

SMOC1 (SPARC related modular calcium binding 1)
EnsemblGeneIds (GRCh38): ENSG00000198732
EnsemblGeneIds (GRCh37): ENSG00000198732
OMIM: 608488, Gene2Phenotype
SMOC1 is in 10 panels

1 review

Helen Brittain (Genomics England Curator)

Red List (low evidence)

One historical case report where cleft lip is mentioned. In the mutation positive cases I cannot find clefting as a key feature and would expect the ocular features to be the key presentation
Created: 26 May 2017, 7:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MICROPHTHALMIA WITH LIMB ANOMALIES; MLA

Created: 26 May 2017, 7:17 a.m.

Panel version: 0.191

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red

Phenotypes

MICROPHTHALMIA WITH LIMB ANOMALIES
MLA

OMIM

608488

Clinvar variants

Variants in SMOC1

Penetrance

Complete

Panels with this gene

History Filter Activity

31 May 2017, Gel status: 1

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

26 May 2017, Gel status: 1

Added New Source

Helen Brittain (Genomics England Curator)

SMOC1 was added to Cleftingpanel. Sources: Expert Review Red

26 May 2017, Gel status: 0

Created