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| DDG2P v3.12 | POMGNT1 | Achchuthan Shanmugasundram reviewed gene: POMGNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19299310, 12588800, 22419172, 17878207, 15236414, 11709191, 18195152, 19067344; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C3, OMIM:613157, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A3 (MDDGA3), OMIM:253280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | POMGNT1 | Achchuthan Shanmugasundram Publications for gene: POMGNT1 were updated from 18195152; 22419172 to 19299310; 12588800; 22419172; 17878207; 15236414; 11709191; 18195152; 19067344 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | POMGNT1 | Rebecca Foulger reviewed gene: POMGNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | POMGNT1 |
Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C3 613157 for gene: POMGNT1 Publications for gene POMGNT1 were changed from 17878207; 12588800; 15236414; 11709191 to 18195152; 22419172 |
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| DDG2P v0.1 | POMGNT1 |
Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A3 (MDDGA3 253280 for gene: POMGNT1 Publications for gene POMGNT1 were changed from 19299310; 19067344 to 17878207; 12588800; 15236414; 11709191 |
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| DDG2P v0.1 | POMGNT1 |
Rebecca Foulger gene: POMGNT1 was added gene: POMGNT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMGNT1 were set to 19299310; 19067344 Phenotypes for gene: POMGNT1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B3 613151 |
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