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| Structural eye disease v0.76 | GNPTG | Nicola Ragge reviewed gene: GNPTG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucolipidosis III gamma, Retinitis Pigmentosa and skeletal abnormalities, 252605; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | GNPTG | Ivone Leong edited their review of gene: GNPTG: Changed phenotypes: Mucolipidosis III gamma, Retinitis Pigmentosa and skeletal abnormalities, 252605 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | GNPTG | Ivone Leong reviewed gene: GNPTG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyloidosis, Finnish type, 105120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | GNPTG |
Ivone Leong gene: GNPTG was added gene: GNPTG was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNPTG were set to Mucolipidosis III gamma, Retinitis Pigmentosa and skeletal abnormalities, 252605 |
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