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| Leukodystrophy - adult onset v0.119 | TPP2 | Zornitza Stark Mode of inheritance for gene: TPP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.118 | TPP2 | Zornitza Stark edited their review of gene: TPP2: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.98 | TPP2 | Zornitza Stark Marked gene: TPP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.98 | TPP2 | Zornitza Stark Gene: tpp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.98 | TPP2 | Zornitza Stark Classified gene: TPP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.98 | TPP2 | Zornitza Stark Gene: tpp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.97 | TPP2 |
Zornitza Stark gene: TPP2 was added gene: TPP2 was added to Leukodystrophy - adult onset. Sources: Expert Review Mode of inheritance for gene: TPP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TPP2 were set to 25414442 Phenotypes for gene: TPP2 were set to Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220 Review for gene: TPP2 was set to GREEN Added comment: 14 individuals with "TRIANGLE" (TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion) syndrome are summarized in 25414442, where 4/14 presented in adulthood with white matter leasions mimicking multiple sclerosis. Sources: Expert Review |
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