Leukodystrophy - adult onset
Gene: TPP2
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 ReviewCreated: 24 Jan 2022, 5:27 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220
Publications
Mode of inheritance for gene: TPP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Gene: tpp2 has been classified as Green List (High Evidence).
Gene: tpp2 has been classified as Green List (High Evidence).
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