SMOC1
OMIM: *608488
14q24.2 – NM_001034852.2
c.211C>T (p.Arg71*) exon 2
rs number / neighbourhood
rs532566349
TGAGTACCAG[C/T]GAGCCAAGTG
Genomic Coordinates
GRCh37/hg19: chr14:70418966
GRCh38/hg38: chr14:69952249
Frequency
ExAC: T=8.238e-06
1000GP: T=0.0002
ESP: not reported
Pathogenic for microphthalmia with limb anomalies
Reference: PMID: 21750680, PMID: 18541965.
#1 PMID: 21750680, PMID: 18541965.
| Clinical Sign | HPO ID |
| Unilateral anophthalmia | HP:0000528 |
| Lower limbs, postaxial oligodactyly | HP:0006210 |
| Pierre-Robin sequence | HP:0000201 |
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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 Khan et Zafar. As discrepancies have been noticed between the familial pedigree in Rainger et the family description in Khan et Zafar, we opted for the most reliable familial pedigree.
