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| DDG2P v4.10 | HCCS | Achchuthan Shanmugasundram edited their review of gene: HCCS: Added comment: The DDG2P confidence category for the disease HCCS-related linear skin defects with microphthalmia, OMIM:309801 is moderate. The allelic requirement and mutation consequence are monoallelic_X_het and absent gene product (PMID: 17893649;24735900;17033964).; Changed publications to: 17893649, 24735900, 17033964; Changed phenotypes to: HCCS-related linear skin defects with microphthalmia, OMIM:309801, MICROPHTHALMIA SYNDROMIC TYPE 7, OMIM:309801 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HCCS | Achchuthan Shanmugasundram reviewed gene: HCCS: Rating: GREEN; Mode of pathogenicity: ; Publications: 17033964; Phenotypes: MICROPHTHALMIA SYNDROMIC TYPE 7, OMIM:309801; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HCCS | Rebecca Foulger reviewed gene: HCCS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | HCCS |
Rebecca Foulger gene: HCCS was added gene: HCCS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HCCS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: HCCS were set to 17033964 Phenotypes for gene: HCCS were set to MICROPHTHALMIA SYNDROMIC TYPE 7 309801 |
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