Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Department of Medical Genetics, |
RCV000991130 | SCV000925964 | pathogenic | Hydronephrosis; Pulmonary hypoplasia; Hydroureter; Aplasia/hypoplasia involving bones of the lower limbs; Absence of the sacrum; Hypoplastic left heart syndrome | 2019-07-10 | criteria provided, single submitter | clinical testing | Monoallelic variants in the TBX4 gene are reported to be associated with skeletal defects of the pelvis and lower limbs. In this case, this novel homozygous nonsense variant in the TBX4 gene was found to be associated with multiple malformations in a fetus namely bilateral lower limb aplasia, sacrococcygeal agenesis, bilateral lung hypoplasia, hypoplastic left heart, fetal hydrops and bilateral hydroureteronephrosis. Similar fetal anomalies were documented in the previous two terminated pregnancies of this third-degree consanguineous couple. Both partners were confirmed to be heterozygous carriers. While the mother could not be evaluated in detail; the heterozygous father was found to have features of small patella syndrome in the form of patellar hypoplasia, hypoplasia of lesser trochanter of femur and short fourth and fifth metatarsals bilaterally. We propose that this biallelic variant in the TBX4 gene may be associated with this severe syndromic phenotype of sacrococcygeal agenesis and lower limb reduction defects. |
| OMIM | RCV001251075 | SCV001426464 | pathogenic | Autosomal recessive amelia | 2020-08-04 | no assertion criteria provided | literature only | |
| OMIM | RCV001251076 | SCV001426465 | pathogenic | Coxopodopatellar syndrome | 2020-08-04 | no assertion criteria provided | literature only |