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| Prepair 500+ v1.136 | BTK | Zornitza Stark Phenotypes for gene: BTK were changed from Agammaglobulinemia and isolated hormone deficiency, 307200 (3) to Agammaglobulinemia, X-linked 1 MIM#300755; Bruton-type agammaglobulinemia MONDO:0010421; Isolated growth hormone deficiency, type III, with agammaglobulinemia MIM#307200 MONDO:0010615 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 500+ v1.29 | AGA | Zornitza Stark Marked gene: AGA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 500+ v1.29 | AGA | Zornitza Stark Gene: aga has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 500+ v1.29 | AGA | Zornitza Stark Phenotypes for gene: AGA were changed from Aspartylglucosaminuria, 208400 (3) to Aspartylglucosaminuria, MIM# 208400, MONDO:0008830 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 500+ v1.28 | AGA | Zornitza Stark Publications for gene: AGA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 500+ v0.0 | NAGA |
Seb Lunke gene: NAGA was added gene: NAGA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NAGA were set to Schindler disease, type I, 609241 (3) |
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| Prepair 500+ v0.0 | BTK |
Seb Lunke gene: BTK was added gene: BTK was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: BTK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: BTK were set to Agammaglobulinemia and isolated hormone deficiency, 307200 (3) |
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| Prepair 500+ v0.0 | AGA |
Seb Lunke gene: AGA was added gene: AGA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGA were set to Aspartylglucosaminuria, 208400 (3) |
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