SMOC1
OMIM: *608488
14q24.2 – NM_001034852.2
c.1108C>T (p.Gln370*) exon 11
rs number / neighbourhood
no rs number
GTATTTCAGC[C/T]AGCTGGACAG
Genomic Coordinates
GRCh37/hg19: chr14:70489981
GRCh38/hg38: chr14:70023264
Frequency
ExAC: not reported
1000GP: not reported
ESP: not reported
Pathogenic for microphthalmia with limb anomalies
Reference: PMID: 21750680, PMID: 8723070.
#1 PMID: 21750680, PMID: 8723070
| Clinical Sign | HPO ID |
| Bilateral anophthalmia | HP:0000528 |
| Upper limbs, bilateral 4/5 metacarpal fusion | HP:0005867 |
| Upper limbs, camptodactily | HP:0100490 |
| Lower limbs, postaxial oligodactyly | HPO:0006210 |
| Contractures of elbows | HP:0002987 |
| Coxa valga | HP:0002673 |
| Severe mental retardation | HP:0010864 |
| Epilepsy | HP:0001250 |
| Cryptorchidism | HP:0000028 |
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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 (reported as c.212C>T in the paper). The patient was firstly reviewed by Suyugul.
