14q24.2 – NM_001034852.2
c.223C>T (p.Arg75*) exon 2
rs number / neighbourhood
1000GP: not reported
Pathogenic for microphthalmia with limb anomalies
Reference: PMID: 21750680, PMID: 6544388.
#1 PMID: 21750680, PMID: 6544388.
|Clinical Sign||HPO ID|
|Upper Limb, bilateral 4-5 metacarpal fusion||HP:0005867|
|Lower Limb, postaxial oligodactyly||HP:0006210|
|Severe mental retardation||HP:0010864|
|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.224C>T). The patient was firstly reviewed by Pallotta et Dallapiccola.