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Severe Paediatric Disorders v1.29 MPI Arina Puzriakova Publications for gene: MPI were set to 30847515
Severe Paediatric Disorders v1.28 MPI Arina Puzriakova Phenotypes for gene: MPI were changed from Congenital disorder of glycosylation, type Ib, 602579 to Congenital disorder of glycosylation, type Ib, OMIM:602579; MPI-CDG, MONDO:0011257
Severe Paediatric Disorders v0.12 MPIG6B Louise Daugherty reviewed gene: MPIG6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MPI Louise Daugherty reviewed gene: MPI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 MPIG6B Louise Daugherty Publications for gene MPIG6B were updated from to 30847515
Severe Paediatric Disorders v0.11 MPI Louise Daugherty Publications for gene MPI were updated from to 30847515
Severe Paediatric Disorders v0.11 MPIG6B Louise Daugherty Mode of inheritance for gene MPIG6B was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MPI Louise Daugherty Mode of inheritance for gene MPI was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.10 MPIG6B Louise Daugherty Added phenotypes Thrombocytopenia, anemia, and myelofibrosis, 617441 for gene: MPIG6B
Severe Paediatric Disorders v0.10 MPI Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ib, 602579 for gene: MPI
Severe Paediatric Disorders v0.9 MPIG6B Louise Daugherty Added phenotypes Thrombocytopenia, anemia, and myelofibrosis, 617441 for gene: MPIG6B
Severe Paediatric Disorders v0.9 MPI Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ib, 602579 for gene: MPI
Severe Paediatric Disorders v0.9 MPIG6B Louise Daugherty Added phenotypes Thrombocytopenia, anemia, and myelofibrosis, 617441 for gene: MPIG6B
Severe Paediatric Disorders v0.9 MPI Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ib, 602579 for gene: MPI
Severe Paediatric Disorders v0.8 MPIG6B Louise Daugherty Added phenotypes Thrombocytopenia, anemia, and myelofibrosis, 617441 for gene: MPIG6B
Severe Paediatric Disorders v0.8 MPI Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ib, 602579 for gene: MPI
Severe Paediatric Disorders v0.7 MPIG6B Louise Daugherty Source Next Generation Children Project was added to MPIG6B.
Severe Paediatric Disorders v0.7 MPI Louise Daugherty Source Next Generation Children Project was added to MPI.
Severe Paediatric Disorders v0.5 MPIG6B Louise Daugherty Source Expert Review Green was added to MPIG6B.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 MPI Louise Daugherty Source Expert Review Green was added to MPI.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 MPIG6B Louise Daugherty gene: MPIG6B was added
gene: MPIG6B was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: MPIG6B was set to
Severe Paediatric Disorders v0.4 MPI Louise Daugherty gene: MPI was added
gene: MPI was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: MPI was set to