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| DDG2P v4.10 | CRIPT | Achchuthan Shanmugasundram edited their review of gene: CRIPT: Added comment: The DDG2P confidence category for the disease CRIPT-related short stature, microcephaly, poikiloderma and skeletal abnormalities (Rothmund Thomson like), OMIM:615789 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 24389050;27250922;36630262;37013901).; Changed rating: GREEN; Changed publications to: 36630262, 24389050, 37013901, 27250922; Changed phenotypes to: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES, OMIM:615789, CRIPT-related short stature, microcephaly, poikiloderma and skeletal abnormalities (Rothmund Thomson like), OMIM:615789 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.9 | CRIPT |
Achchuthan Shanmugasundram Source Expert Review Green was added to CRIPT. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.12 | CRIPT | Achchuthan Shanmugasundram reviewed gene: CRIPT: Rating: RED; Mode of pathogenicity: ; Publications: 24389050; Phenotypes: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES, OMIM:615789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CRIPT | Rebecca Foulger reviewed gene: CRIPT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CRIPT |
Rebecca Foulger gene: CRIPT was added gene: CRIPT was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CRIPT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRIPT were set to 24389050 Phenotypes for gene: CRIPT were set to SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 615789 |
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