14q24.2 – NM_001034852.2
c.211C>T (p.Arg71*) exon 2
rs number / neighbourhood
ESP: not reported
Pathogenic for microphthalmia with limb anomalies
Reference: PMID: 21750680, PMID: 18541965.
#1 PMID: 21750680, PMID: 18541965.
|Clinical Sign||HPO ID|
|Lower limbs, postaxial oligodactyly||HP:0006210|
|Affected individual – variant in a homozygous state|
|Affected individual – genotype unknown|
|Not affected individual – variant in a heterozygous state (carrrier)|
|Not affected individual – genotype unknown|
|Not affected individual – the variant is not present|
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.