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Severe Paediatric Disorders v0.12 | MMADHC | Louise Daugherty reviewed gene: MMADHC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | MMADHC | Louise Daugherty Publications for gene MMADHC were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | MMADHC | Louise Daugherty Mode of inheritance for gene MMADHC was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | MMADHC | Louise Daugherty Added phenotypes Homocystinuria, cblD type, variant 1, 277410; Methylmalonic aciduria, cblD type, variant 2, 277410; Methylmalonic aciduria and homocystinuria, cblD type, 277410 for gene: MMADHC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | MMADHC | Louise Daugherty Added phenotypes Homocystinuria, cblD type, variant 1, 277410; Methylmalonic aciduria, cblD type, variant 2, 277410; Methylmalonic aciduria and homocystinuria, cblD type, 277410 for gene: MMADHC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | MMADHC | Louise Daugherty Added phenotypes Homocystinuria, cblD type, variant 1, 277410; Methylmalonic aciduria, cblD type, variant 2, 277410; Methylmalonic aciduria and homocystinuria, cblD type, 277410 for gene: MMADHC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | MMADHC | Louise Daugherty Added phenotypes Methylmalonic aciduria and homocystinuria, cblD type, 277410; Homocystinuria, cblD type, variant 1, 277410; Methylmalonic aciduria, cblD type, variant 2, 277410 for gene: MMADHC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | MMADHC | Louise Daugherty Source Next Generation Children Project was added to MMADHC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | MMADHC |
Louise Daugherty Source Expert Review Green was added to MMADHC. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | MMADHC |
Louise Daugherty gene: MMADHC was added gene: MMADHC was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: MMADHC was set to |