SMOC1
OMIM: *608488
14q24.2 – NM_001034852.2
c.395dupA (p.Tyr132fs*1) exon 4
rs number / neighbourhood
no rs number
TGCCATACTTA[-/A]CACTGGGTAC
Genomic Coordinates
GRCh37/hg19: chr14:70442448
GRCh38/hg38: chr14:69975731
Frequency
ExAC: not reported
1000GP: not reported
ESP: not reported
Pathogenic for microphthalmia with limb anomalies
Reference: PMID: 21750680, PMID: 17375532.
#1 PMID: 21750680, PMID: 17375532.
| Clinical Sign | HPO ID |
| Bilateral anophthalmia | HP:0000528 |
| Upper limbs, bilateral 4/5 metacarpal fusion | HP:0005867 |
| Lower Limb, postaxial oligodactyly | HP:0006210 |
| Bowed tibia | HP:0002982 |
| Horseshoe kidney | HP:0000085 |
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Affected individual – variant in a homozygous state |
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Affected individual – genotype unknown |
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Not affected individual – variant in a heterozygous state (carrrier) |
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Not affected individual – genotype unknown |
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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 patient. The patient was firstly reviewed by Garavelli.
