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| Skeletal Dysplasia_Fetal v0.186 | MEOX1 | Zornitza Stark Marked gene: MEOX1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.186 | MEOX1 | Zornitza Stark Gene: meox1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.186 | MEOX1 | Zornitza Stark Classified gene: MEOX1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.186 | MEOX1 | Zornitza Stark Gene: meox1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.177 | MEOX1 |
Krithika Murali gene: MEOX1 was added gene: MEOX1 was added to Skeletal Dysplasia_Fetal. Sources: Literature Mode of inheritance for gene: MEOX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MEOX1 were set to 24073994; 23290072 Phenotypes for gene: MEOX1 were set to Klippel-Feil syndrome 2, OMIM:214300; Klippel-Feil syndrome 2, autosomal recessive, MONDO:0008958 Review for gene: MEOX1 was set to GREEN Added comment: Review from fetal anomalies panel: Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. 3 families with multiple affected individuals and homozygous variants segregating fully with the disease. meox1cho mutant zebrafish show vertebral fusion, congenital scoliosis and asymmetry of pectoral girdle, which resembles Sprengel's deformity. Sources: Literature |
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