SMOC1
OMIM: *608488
14q24.2 – NM_001034852.2
c.910delG (p.Asp305Metfs*59) exon 9
rs number / neighbourhood
no rs number
TACAGAGGCG[G/-]ATGACCCCTT
Genomic Coordinates
GRCh37/hg19: chr14:70478254
GRCh38/hg38: chr14:70011537
Frequency
ExAC: not reported
1000GP: not reported
ESP: not reported
Pathogenic for microphthalmia with limb anomalies
Reference: PMID: 21750680.
#1 PMID: 21750680.
| Clinical Sign | HPO ID |
| Upper limb, cutaneous syndactyly | HP:0010554 |
| Lower Limb, cutaneous syndactyly from 3 to 5 toes | HP:0010716 |
| Horseshoe kidney | HP:0000085 |
| Hypospadias | HP:0000047 |
 |
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: 21750680.
| Clinical Sign | HPO ID |
| Bilateral anophthalmia | HP:0000528 |
| Upper limb, cutaneous syndactyly | HP:0010554 |
| Hypoplasia of the 5th finger | HP:0006262 |
| Lower limbs, postaxial oligodactyly | HP:0006210 |
| Lower Limb, cutaneous syndactyly 2–4 right | HP:0005768 |
| Lower Limb, cutaneous syndactyly 2/3 left | HP:0005709 |
| Cleft palate | HP:0000175 |
| Horseshoe kidney | HP:0000085 |
| 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 Rainger and found in a homozygous state in both patients (reported as c.911delG in the paper).
