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| DDG2P v3.19 | SUFU | Achchuthan Shanmugasundram Phenotypes for gene: SUFU were changed from Joubert Syndrome with Cranio-facial and Skeletal Defects; SUFU-related Joubert and congenital ocular motor apraxia to Joubert Syndrome with Cranio-facial and Skeletal Defects; SUFU-related Joubert and congenital ocular motor apraxia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.19 | SUFU | Achchuthan Shanmugasundram Phenotypes for gene: SUFU were changed from Joubert Syndrome with Cranio-facial and Skeletal Defects; SUFU-related Joubert and congenital ocular motor apraxia to Joubert Syndrome with Cranio-facial and Skeletal Defects; SUFU-related Joubert and congenital ocular motor apraxia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.19 | SUFU | Achchuthan Shanmugasundram Phenotypes for gene: SUFU were changed from Joubert Syndrome with Cranio-facial and Skeletal Defects to Joubert Syndrome with Cranio-facial and Skeletal Defects; SUFU-related Joubert and congenital ocular motor apraxia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.18 | SUFU |
Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease SUFU-related Joubert and congenital ocular motor apraxia is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 33024317;34675124). This gene-disease association is typified by reduced penetrance. The DDG2P confidence category for the disease Joubert Syndrome with Cranio-facial and Skeletal Defects is strong. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID:28965847).; to: The DDG2P confidence category for the disease SUFU-related Joubert and congenital ocular motor apraxia is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 33024317;34675124). This gene-disease association is typified by reduced penetrance. The DDG2P confidence category for the disease Joubert Syndrome with Cranio-facial and Skeletal Defects is strong. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID:28965847). |
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| DDG2P v3.12 | SUFU | Achchuthan Shanmugasundram reviewed gene: SUFU: Rating: GREEN; Mode of pathogenicity: ; Publications: 28965847, 34675124, 33024317; Phenotypes: Joubert Syndrome with Cranio-facial and Skeletal Defects, SUFU-related Joubert and congenital ocular motor apraxia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SUFU |
Achchuthan Shanmugasundram Source Expert Review Green was added to SUFU. Mode of inheritance for gene SUFU was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SUFU were updated from 28965847 to 33024317; 28965847; 34675124 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | SUFU | Rebecca Foulger reviewed gene: SUFU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SUFU |
Rebecca Foulger gene: SUFU was added gene: SUFU was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SUFU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUFU were set to 28965847 Phenotypes for gene: SUFU were set to Joubert Syndrome with Cranio-facial and Skeletal Defects Mode of pathogenicity for gene: SUFU was set to Other - please provide details in the comments |
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