SMOC1
OMIM: *608488
14q24.2 – NM_001034852.2
c.718C>T (Gln240*) exon 8
rs number / neighbourhood
rs376672665
AGAGGCCCAG[C/T]AGAATCCCCG
Genomic Coordinates
GRCh37/hg19: chr14:70477524
GRCh38/hg38: chr14:70010807
Frequency
ExAC: not reported
1000GP: not reported
ESP: not reported
The variant has been reported in ClinVar as pathogenic for anophthalmos with limb anomalies (Variation ID: 30726)
The variant has been reported in the OMIM Allelic Variants List for the SMOC1 gene (.0001)
Pathogenic for microphthalmia with limb anomalies
Reference:PMID: 21194678, PMID: 19208380.
#1 PMID: 21194678, PMID: 19208380.
| Clinical Sign | HPO ID |
| True anophthalmia (bilateral) | HP:0011478 |
| Upper limbs, Metacarpal synostosis (bilateral) | HP:0009701 |
| Upper limbs, clinodactyly | HP:0040019 |
| Upper limbs, campodactyly | HP:0100490 |
| Upper limbs, Simian crease | HP:0000954 |
| Lower limbs, Oligodactyly | HP:0001849 |
| Lower limbs, metatarsal synostosis | HP:0001440 |
| Bowed tibia | HP:0002982 |
| Hypoplastic fibula | HP:0003038 |
| Sandal gap | HP:0001852 |
| 2-3 toe cutaneous syndactyly | HP:0005709 |
| Pes valgus | HP:0004684 |
| Failure to thrive | HP:0001508 |
| Mental retardation | HP:0001249 |
| Cryptorchidism | HP:0000028 |
 |
Affected individual – variant in a homozygous state |
 |
Affected individual – genotype unknown |
 |
Not affected individual – variant in a heterozygous state (carrrier) |
 |
Not affected individual – genotype unknown |
 |
Not affected individual – the variant is not present |
#2 PMID: 21194678, PMID: 19208380.
| Clinical Sign | HPO ID |
| True anophthalmia (bilateral) | HP:0011478 |
| Upper limbs, Metacarpal synostosis (bilateral) | HP:0009701 |
| Upper limbs, Simian crease | HP:0000954 |
| Lower limbs, Oligodactyly | HP:0001849 |
| Lower limbs, metatarsal synostosis | HP:0001440 |
| Bowed tibia | HP:0002982 |
| Hypoplastic fibula | HP:0003038 |
| Sandal gap | HP:0001852 |
| 2-3 toe cutaneous syndactyly | HP:0005709 |
| Failure to thrive | HP:0001508 |
| Mental retardation | HP:0001249 |
|
Affected individual – variant in a homozygous state |
|
Affected individual – genotype unknown |
|
Not affected individual – variant in a heterozygous state (carrrier) |
|
Not affected individual – genotype unknown |
|
Not affected individual – the variant is not present |
Additional notes
The variant has been detected in Okada and found in a homozygous state in both patients. The patient was firstly reviewed by Hamanoue.
