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| DDG2P v3.12 | MLC1 | Achchuthan Shanmugasundram reviewed gene: MLC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11935341, 11254442, 12189496, 21624973, 14615938; Phenotypes: LEUKOENCEPHALOPATHY MEGALENCEPHALIC WITH SUBCORTICAL CYSTS, OMIM:604004; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DCX | Achchuthan Shanmugasundram reviewed gene: DCX: Rating: GREEN; Mode of pathogenicity: ; Publications: 10441340, 9489700, 9489699, 12552055, 11468322; Phenotypes: SUBCORTICAL BAND HETEROTOPIA X-LINKED, OMIM:300067, LISSENCEPHALY X-LINKED TYPE 1, OMIM:300067; 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 v3.12 | BCORL1 | Achchuthan Shanmugasundram reviewed gene: BCORL1: Rating: RED; Mode of pathogenicity: Other; Publications: 30941876, 33810051, 34400773, 24123876; Phenotypes: Shukla-Vernon Syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BCOR | Achchuthan Shanmugasundram reviewed gene: BCOR: Rating: GREEN; Mode of pathogenicity: ; Publications: 29974297, 28317252, 19367324, 15957158, 31048080, 15004558, 15770227; Phenotypes: MICROPHTHALMIA SYNDROMIC TYPE 2, OMIM:300166; 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 v3.12 | APC2 | Achchuthan Shanmugasundram reviewed gene: APC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31585108; Phenotypes: Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | BCORL1 |
Achchuthan Shanmugasundram gene: BCORL1 was added gene: BCORL1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: BCORL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: BCORL1 were set to 30941876; 33810051; 34400773; 24123876 Phenotypes for gene: BCORL1 were set to Shukla-Vernon Syndrome Mode of pathogenicity for gene: BCORL1 was set to Other |
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| DDG2P v3.11 | BCOR | Achchuthan Shanmugasundram Publications for gene: BCOR were updated from 15957158; 19367324; 15004558; 15770227 to 29974297; 28317252; 19367324; 15957158; 31048080; 15004558; 15770227 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.151 | APC2 |
Rebecca Foulger gene: APC2 was added gene: APC2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: APC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: APC2 were set to 31585108 Phenotypes for gene: APC2 were set to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay |
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| DDG2P v0.2 | BCOR | Rebecca Foulger reviewed gene: BCOR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PAFAH1B1 | Rebecca Foulger Added phenotypes SUBCORTICAL BAND HETEROTOPIA 607432 for gene: PAFAH1B1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MLC1 |
Rebecca Foulger gene: MLC1 was added gene: MLC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MLC1 were set to 11254442; 12189496; 14615938; 11935341; 21624973 Phenotypes for gene: MLC1 were set to LEUKOENCEPHALOPATHY MEGALENCEPHALIC WITH SUBCORTICAL CYSTS 604004 |
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| DDG2P v0.1 | DCX |
Rebecca Foulger gene: DCX was added gene: DCX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DCX 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: DCX were set to 11468322; 12552055; 10441340; 9489699; 9489700 Phenotypes for gene: DCX were set to SUBCORTICAL BAND HETEROTOPIA X-LINKED 300067 |
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| DDG2P v0.1 | BCOR |
Rebecca Foulger gene: BCOR was added gene: BCOR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BCOR 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: BCOR were set to 15957158; 19367324; 15004558; 15770227 Phenotypes for gene: BCOR were set to MICROPHTHALMIA SYNDROMIC TYPE 2 300166 |
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