SMOC1
OMIM: *608488
14q24.2 – NM_001034852.2
c.378+1G>A intron 3
rs number / neighbourhood
rs751356341
CTTTACCCAG[g/a]tgaggcctcg
Genomic Coordinates
GRCh37/hg19: chr14:70420250
GRCh38/hg38: chr14:69953533
Frequency
ExAC: A=8.27e-06 (filtered out)
1000GP: not reported
ESP: not reported
Reported in ClinVar as pathogenic for anophthalmos with limb anomalies (Variation ID: 30728)
Pathogenic for microphthalmia with limb anomalies
Reference: PMID: 21194678, PMID: 10607960.
#1 PMID: 21194678, PMID: 10607960.
| Clinical Sign | HPO ID |
| Bilateral anophthalmia | HP:0000528 |
| Small face | HP:0000274 |
| Short palpebral fissures | HP:0012745 |
| Close eyelids | HP:0000492 |
| Upper limbs, syndactyly between the 4th and 5th fingers | HP:0010705 |
| Lower limbs, absence of the 5th toe | HP:0010343 |
| Proximal 4th and 5th metacarpal synostosis | HP:0009707; HP:0009708 |
| Hypoplasia of the 5th finger | HP:0006262 |
| Coalition of capitate and hamate | HP:0001241 |
| Lower limbs, absence of 5th metatarsals and toes | HP:0008079 |
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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 Okada and found in a homozygous state in the patient. The patient was firstly reviewed by Cogulu.