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| DDG2P v3.12 | HCFC1 | Achchuthan Shanmugasundram reviewed gene: HCFC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23000143, 1870093, 24011988; Phenotypes: COBALAMIN DISORDER, INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3, OMIM:309541; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CFC1 | Achchuthan Shanmugasundram reviewed gene: CFC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS, OMIM:319372; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HCFC1 | Achchuthan Shanmugasundram Publications for gene: HCFC1 were updated from 24011988 to 1870093; 23000143; 24011988 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CFC1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CFC1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | HCFC1 | Rebecca Foulger reviewed gene: HCFC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CFC1 | Rebecca Foulger reviewed gene: CFC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | HCFC1 |
Rebecca Foulger Added phenotypes COBALAMIN DISORDER for gene: HCFC1 Publications for gene HCFC1 were changed from 1870093; 23000143 to 24011988 |
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| DDG2P v0.1 | HCFC1 |
Rebecca Foulger gene: HCFC1 was added gene: HCFC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HCFC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: HCFC1 were set to 1870093; 23000143 Phenotypes for gene: HCFC1 were set to MENTAL RETARDATION, X-LINKED 3 309541 |
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| DDG2P v0.1 | CFC1 |
Rebecca Foulger gene: CFC1 was added gene: CFC1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CFC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CFC1 were set to CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS 319372 |
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