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| Prepair 1000+ v1.552 | GNB5 | Lilian Downie Marked gene: GNB5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.552 | GNB5 | Lilian Downie Gene: gnb5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.552 | GNB5 | Lilian Downie Phenotypes for gene: GNB5 were changed from Intellectual developmental disorder with cardiac arrhythmia, 617173 (3), Autosomal recessive to Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (MIM#617173); Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (MIM#617182) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.551 | GNB5 | Lilian Downie Publications for gene: GNB5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.547 | GNB5 | Ee Ming Wong reviewed gene: GNB5: Rating: GREEN; Mode of pathogenicity: None; Publications: 34436834; Phenotypes: Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (MIM#617173), Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (MIM#617182); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | GNB5 | Seb Lunke Added phenotypes Intellectual developmental disorder with cardiac arrhythmia, 617173 (3), Autosomal recessive for gene: GNB5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | GNB5 |
Zornitza Stark gene: GNB5 was added gene: GNB5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNB5 were set to Intellectual developmental disorder with cardiac arrhythmia, 617173 (3), Autosomal recessive |
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