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Severe Paediatric Disorders v0.17 | MAT1A | Louise Daugherty Mode of inheritance for gene MAT1A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | MAT1A | Louise Daugherty reviewed gene: MAT1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | MAT1A | Louise Daugherty Publications for gene MAT1A were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | MAT1A | Louise Daugherty Added phenotypes Methionine adenosyltransferase deficiency, autosomal recessive, 250850; Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 for gene: MAT1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | MAT1A | Louise Daugherty Added phenotypes Methionine adenosyltransferase deficiency, autosomal recessive, 250850; Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 for gene: MAT1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | MAT1A | Louise Daugherty Added phenotypes Methionine adenosyltransferase deficiency, autosomal recessive, 250850; Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 for gene: MAT1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | MAT1A | Louise Daugherty Added phenotypes Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850; Methionine adenosyltransferase deficiency, autosomal recessive, 250850 for gene: MAT1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | MAT1A | Louise Daugherty Source Next Generation Children Project was added to MAT1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | MAT1A |
Louise Daugherty Source Expert Review Green was added to MAT1A. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | MAT1A |
Louise Daugherty gene: MAT1A was added gene: MAT1A was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: MAT1A was set to |