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| DDG2P v3.12 | MAMLD1 | Achchuthan Shanmugasundram reviewed gene: MAMLD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17086185; Phenotypes: X-LINKED HYPOSPADIAS TYPE 2, OMIM:300758; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MAMLD1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MAMLD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | MAMLD1 | Rebecca Foulger reviewed gene: MAMLD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MAMLD1 |
Rebecca Foulger gene: MAMLD1 was added gene: MAMLD1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MAMLD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MAMLD1 were set to 17086185 Phenotypes for gene: MAMLD1 were set to X-LINKED HYPOSPADIAS TYPE 2 300758 |
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