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Skeletal Dysplasia_Fetal v0.183 MATN3 Zornitza Stark Marked gene: MATN3 as ready
Skeletal Dysplasia_Fetal v0.183 MATN3 Zornitza Stark Gene: matn3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.183 MATN3 Zornitza Stark Classified gene: MATN3 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.183 MATN3 Zornitza Stark Gene: matn3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.177 MATN3 Krithika Murali gene: MATN3 was added
gene: MATN3 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: MATN3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MATN3 were set to 31724101; 32025536; 11968079; 14729835
Phenotypes for gene: MATN3 were set to Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type, MIM# 608728
Review for gene: MATN3 was set to GREEN
Added comment: Fetal anomalies panel review: perinatal onset of the more severe SEMD phenotype.
Sources: Literature