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| Prepair 500+ v1.909 | UGT1A1 | Seb Lunke Phenotypes for gene: UGT1A1 were changed from Crigler-Najjar syndrome, type I, 218800 (3) to Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport); Crigler-Najjar syndrome, type I MIM#218800; Crigler-Najjar syndrome, type II MIM#606785 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 500+ v1.833 | POR | Zornitza Stark Marked gene: POR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 500+ v1.833 | POR | Zornitza Stark Gene: por has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 500+ v1.833 | POR | Zornitza Stark Phenotypes for gene: POR were changed from Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3) to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (MIM#201750) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 500+ v1.832 | POR | Zornitza Stark Publications for gene: POR were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 500+ v1.650 | MMADHC | Zornitza Stark Phenotypes for gene: MMADHC were changed from Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3) to Homocystinuria, cblD type, variant 1 MIM#277410; Methylmalonic aciduria and homocystinuria, cblD type MIM#277410; Methylmalonic aciduria, cblD type, variant 2 MIM#277410; Disorders of cobalamin absorption, transport and metabolism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 500+ v1.281 | DGUOK | Zornitza Stark Phenotypes for gene: DGUOK were changed from Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3) to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880; Portal hypertension, noncirrhotic, 1, MIM# 617068; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 500+ v1.218 | COL4A5 | Zornitza Stark Phenotypes for gene: COL4A5 were changed from Alport syndrome 1, X-linked to Alport syndrome 1, X-linked, MIM#301050 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 500+ v1.216 | COL4A4 | Zornitza Stark Phenotypes for gene: COL4A4 were changed from Alport syndrome, autosomal recessive, 203780 (3) to Alport syndrome 2, autosomal recessive MIM# 203780 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 500+ v1.214 | COL4A3 | Zornitza Stark Phenotypes for gene: COL4A3 were changed from Alport syndrome, autosomal recessive, 203780 (3) to Alport syndrome 3b, autosomal recessive MIM#620536; MONDO:0957811 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 500+ v0.0 | POR |
Seb Lunke gene: POR was added gene: POR was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POR were set to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3) |
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| Prepair 500+ v0.0 | COL4A5 |
Seb Lunke gene: COL4A5 was added gene: COL4A5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: COL4A5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: COL4A5 were set to Alport syndrome 1, X-linked |
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| Prepair 500+ v0.0 | COL4A4 |
Seb Lunke gene: COL4A4 was added gene: COL4A4 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: COL4A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL4A4 were set to Alport syndrome, autosomal recessive, 203780 (3) |
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| Prepair 500+ v0.0 | COL4A3 |
Seb Lunke gene: COL4A3 was added gene: COL4A3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: COL4A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL4A3 were set to Alport syndrome, autosomal recessive, 203780 (3) |
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