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| DDG2P v4.10 | CASP2 | Achchuthan Shanmugasundram edited their review of gene: CASP2: Added comment: The DDG2P confidence category for the disease CASP2-related developmental disorder with lissencephaly is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 37880421;21937992).; Changed rating: GREEN; Changed publications to: 21937992, 37880421; Changed phenotypes to: CASP2-related developmental disorder with lissencephaly, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.9 | CASP2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CASP2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v4.3 | CASP2 | Arina Puzriakova Phenotypes for gene: CASP2 were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, OMIM:620653 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CASP2 | Achchuthan Shanmugasundram reviewed gene: CASP2: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CASP2 | Rebecca Foulger reviewed gene: CASP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CASP2 |
Rebecca Foulger gene: CASP2 was added gene: CASP2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CASP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CASP2 were set to 21937992 Phenotypes for gene: CASP2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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