SMOC1
OMIM: *608488
14q24.2 – NM_001034852.2
c.378+1G>T intron 3
rs number / neighbourhood
no rs number
CTTTACCCAG[g/t]tgaggcctcg
Genomic Coordinates
GRCh37/hg19: chr14:70420250
GRCh38/hg38: chr14:69953533
Frequency
ExAC: not reported
1000GP: not reported
ESP: not reported
Pathogenic for microphthalmia with limb anomalies
Reference: PMID: 21194680.
#1 PMID: 21194680.
| Clinical Sign | HPO ID |
| True anophthalmia Bilateral | HP:0011478 |
| Mild mental retardation | HP:0001256 |
| Broad lateral eyebrows | HP:0011229 |
| Sparse eyelashes | HP:0000653 |
| Short palpebral fissures | HP:0012745 |
| Malar flattening | HP:0000272 |
| High palate | HP:0000218 |
| Bilateral displacement of the thumb | HP:0009603 |
| Osseous finger syndactyly | HP:0010492 |
| Camptodactyly of finger (bilateral) | HP:0100490 |
| Absent ray in both feet | HP:0030030 |
| Sandal gap | HP:0001852 |
| Pes planus | HP:0001763 |
| Scoliosis (mild) | HP:0002650 |
| Carpal synostosis | HP:0009702 |
| Synostosis of carpals/tarsals | HP:0100266 |
 |
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: 21194680.
| Clinical Sign | HPO ID |
| True anophthalmia Bilateral | HP:0011478 |
| Mild mental retardation | HP:0001256 |
| Broad lateral eyebrows | HP:0011229 |
| Sparse eyelashes | HP:0000653 |
| Short palpebral fissures | HP:0012745 |
| Malar flattening | HP:0000272 |
| High palate | HP:0000218 |
| Bilateral displacement of the thumb | HP:0009603 |
| Osseous finger syndactyly | HP:0010492 |
| Camptodactyly of finger (bilateral) | HP:0100490 |
| Absent ray in both feet | HP:0030030 |
| Sandal gap | HP:0001852 |
| Pes planus | HP:0001763 |
| Scoliosis (mild) | HP:0002650 |
| Carpal synostosis | HP:0009702 |
| Synostosis of carpals/tarsals | HP:0100266 |
|
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 Abouzeid and found in a homozygous state in both patients. The only available brother was a carrier for the variant. Unfortunately, it is not possible to determine if the carrier is the elder or the younger brother. The carrier symbol was drawn randomly for the younger brother, exclusively in order to remark that one of the brothers is a carrier.
