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Likely inborn error of metabolism - targeted testing not possible v4.129 | TUSC3 | Arina Puzriakova Publications for gene: TUSC3 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.128 | TUSC3 | Arina Puzriakova Phenotypes for gene: TUSC3 were changed from TUSC3-CDG (Disorders of protein N-glycosylation); Mental retardation, autosomal recessive 7 to Intellectual developmental disorder, autosomal recessive 7, OMIM:611093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.47 | TUSC3 |
Ivone Leong Source NHS GMS was added to TUSC3. Source London North GLH was added to TUSC3. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TUSC3 |
Ellen McDonagh Added phenotypes TUSC3-CDG (Disorders of protein N-glycosylation); Mental retardation, autosomal recessive 7 for gene: TUSC3 Publications for gene TUSC3 were changed from 18452889; 18455129; 27148795; 26864433 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TUSC3 |
Ellen McDonagh gene: TUSC3 was added gene: TUSC3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TUSC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TUSC3 were set to 18452889; 18455129; 27148795; 26864433 Phenotypes for gene: TUSC3 were set to Mental retardation, autosomal recessive 7 |