GMS Musculoskeletal specialist test group Skeletal dysplasia
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

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

At least 3 families. Clinical features include limb anomalies, mainly in distal part.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ophthalmo-acromelic syndrome; Microphthalmia with limb anomalies 206920; Polydactyly

Publications

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Microphthalmia with limb anomalies 206920
Ophthalmo-acromelic syndrome
Polydactyly

OMIM

608488

Clinvar variants

Variants in SMOC1

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

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

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: SMOC1