SMOC1
OMIM: *608488
14q24.2 – NM_001034852.2
c.664+1G>A intron 7
rs number / neighbourhood
no rs number
AGAAATTCAG[g/a]taaataacct
Genomic Coordinates
GRCh37/hg19: chr14:70461198
GRCh38/hg38: chr14:69994481
Frequency
ExAC: not reported
1000GP: not reported
ESP: not reported
Reported in ClinVar as pathogenic for anophthalmos with limb anomalies (Variation ID: 30727)
Pathogenic for microphthalmia with limb anomalies
Reference: PMID: 21194678, PMID: 19208380.
#1 PMID: 21194678, PMID: 19208380.
| Clinical Sign | HPO ID |
| Bilateral anophthalmia | HP:0000528 |
| Upper limbs, clinodactyly | HP:0040019 |
| Upper limbs, camptodactyly | HP:0100490 |
| Lower limbs, bilateral syndactyly of 2nd to 5th toes | HP:0010715 |
| Failure to thrive | HP:0001508 |
| Mental retardation | HP:0001249 |
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Affected individual – variant in a homozygous state |
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Affected individual – genotype unknown |
 |
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 patients. The patient was firstly reviewed by Hamanoue.
