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| DDG2P v3.12 | FAT4 | Achchuthan Shanmugasundram reviewed gene: FAT4: Rating: GREEN; Mode of pathogenicity: ; Publications: 24056717; Phenotypes: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, OMIM:616006, VAN MALDERGEM SYNDROME, OMIM:615546; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.116 | FAT4 |
Rebecca Foulger commented on gene: FAT4: Two new gene:disorders added to DDG2P for FAT4, September 2019: New gene:disorder association: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2. Disease confidence rating in DDG2P: confirmed. DDG2P mutation consequence: uncertain; DDG2P allelic requirement: biallelic. New gene:disorder association: VAN MALDERGEM SYNDROME. Disease confidence rating in DDG2P: confirmed. DDG2P mutation consequence: loss of function; DDG2P allelic requirement: biallelic. |
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| DDG2P v1.116 | FAT4 | Rebecca Foulger Phenotypes for gene: FAT4 were changed from PERIVENTRICULAR NEURONAL HETEROTOPIA to PERIVENTRICULAR NEURONAL HETEROTOPIA; HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 616006; VAN MALDERGEM SYNDROME 615546 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.115 | FAT4 | Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed. ; to: Original DDG2P rating for PERIVENTRICULAR NEURONAL HETEROTOPIA: confirmed. DDG2P Mutation consequence: loss of function; DDG2P allelic requirement: biallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FAT4 | Rebecca Foulger reviewed gene: FAT4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FAT4 |
Rebecca Foulger gene: FAT4 was added gene: FAT4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAT4 were set to 24056717 Phenotypes for gene: FAT4 were set to PERIVENTRICULAR NEURONAL HETEROTOPIA |
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