SMOC1
OMIM: *608488
14q24.2 – NM_001034852.2
c.848C>A (p.Thr283Asn) exon 8
rs number / neighbourhood
no rs number
CTGCCTGGGA[C/A]CTCCACACGG
Genomic Coordinates
GRCh37/hg19: chr14:70477654
GRCh38/hg38: chr14:70010937
Frequency
ExAC: not reported
1000GP: not reported
ESP: not reported
Pathogenic for microphthalmia with limb anomalies
Reference: PMID: 21750680, PMID: 7573150.
#1 PMID: 21750680, PMID: 7573150.
| Clinical Sign | HPO ID |
| Bilateral anophthalmia | HP:0000528 |
| Upper limbs, short 5th metacarpal | HP:0010047 |
| Lower limbs, right fusion 4/5 metatarsal & phalanx | HP:0004692 |
| Lower limbs, cut synd 2-5 | HP:0010621 |
 |
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 the patients. The patient was firstly reviewed by Sayli.
#2 PMID: 21750680, PMID: 7573150.
| Clinical Sign | HPO ID |
| Bilateral anophthalmia | HP:0000528 |
| Upper limbs, short 5th metacarpal | HP:0010047 |
| Lower limbs, cut synd 2-5 | HP:0010621 |
|
Affected individual – variant in a homozygous state |
|
Affected individual – genotype unknown |
|
Not affected individual – variant in a heterozygous state (carrier) |
|
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 the patients . The patient was firstly reviewed by Sayli.
