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| DDG2P v3.12 | PAH | Achchuthan Shanmugasundram reviewed gene: PAH: Rating: GREEN; Mode of pathogenicity: ; Publications: 1671810, 2816939, 8098245, 1975559, 1301200, 1301947, 8829656, 1301201, 2840952, 2014802, 1709636, 2044609, 2564729, 8097261, 11935335, 2035532, 2573272, 2071149, 2309142, 9950317, 1769645, 1671881, 1360590, 1997387, 1363838, 3008810, 1301193, 1363837, 1312992, 7981714, 1358789, 8364546, 1349576, 2606484, 2574002, 1682235, 2884570, 1679030, 8088845; Phenotypes: NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA, OMIM:261600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PAH | Achchuthan Shanmugasundram Publications for gene: PAH were updated from 2840952; 1360590; 2884570; 1301201; 7981714; 8829656; 1769645; 3008810; 1358789; 1363838; 2574002; 8088845; 8097261; 1312992; 2564729; 1349576; 2044609; 1671881; 2014802; 2573272; 1679030; 9950317; 1301200; 8098245; 8364546; 1975559; 2309142; 1301193; 1671810; 1682235; 1709636; 2035532; 1363837; 2071149; 2816939; 1301947; 2606484; 11935335; 1997387 to 1671810; 2816939; 8098245; 1975559; 1301200; 1301947; 8829656; 1301201; 2840952; 2014802; 1709636; 2044609; 2564729; 8097261; 11935335; 2035532; 2071149; 2573272; 2309142; 9950317; 1769645; 1671881; 1360590; 1997387; 1363838; 3008810; 1301193; 1363837; 1312992; 7981714; 1358789; 8364546; 1349576; 2606484; 2574002; 1682235; 2884570; 1679030; 8088845 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PAH | Rebecca Foulger reviewed gene: PAH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PAH | Rebecca Foulger Added phenotypes PHENYLKETONURIA 261600 for gene: PAH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PAH |
Rebecca Foulger gene: PAH was added gene: PAH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAH were set to 2840952; 1360590; 2884570; 1301201; 7981714; 8829656; 1769645; 3008810; 1358789; 1363838; 2574002; 8088845; 8097261; 1312992; 2564729; 1349576; 2044609; 1671881; 2014802; 2573272; 1679030; 9950317; 1301200; 8098245; 8364546; 1975559; 2309142; 1301193; 1671810; 1682235; 1709636; 2035532; 1363837; 2071149; 2816939; 1301947; 2606484; 11935335; 1997387 Phenotypes for gene: PAH were set to NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA 261600 |
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