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| Skeletal dysplasia v0.303 | MEG3 |
Zornitza Stark gene: MEG3 was added gene: MEG3 was added to Skeletal dysplasia. Sources: Expert list SV/CNV, non-coding gene tags were added to gene: MEG3. Mode of inheritance for gene: MEG3 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Publications for gene: MEG3 were set to 33010492; 33746039; 33067531; 38212313 Phenotypes for gene: MEG3 were set to Kagami-Ogata syndrome, MIM# 608149 Review for gene: MEG3 was set to GREEN Added comment: Small deletions of MAG3 reported in multiple patients as one of the mechanisms of disease. Bell-shaped thorax and multiple other skeletal anomalies are a feature. Sources: Expert list |
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| Skeletal dysplasia v0.0 | AGA |
Zornitza Stark gene: AGA was added gene: AGA was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGA were set to Aspartylglucosaminuria 208400 (Patients may be tall for their age, but lack of a growth spurt in puberty typically causes adults to be short) |
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