Activity
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| DDG2P v3.12 | HSD17B4 | Achchuthan Shanmugasundram reviewed gene: HSD17B4: Rating: GREEN; Mode of pathogenicity: ; Publications: 9345094, 10400999, 11992265, 11743515, 9482850, 4061497, 2921319; Phenotypes: D-BIFUNCTIONAL PROTEIN DEFICIENCY, OMIM:261515; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HSD17B4 | Achchuthan Shanmugasundram Publications for gene: HSD17B4 were updated from 9482850; 9345094; 11992265; 11743515; 10400999; 2921319 to 9345094; 10400999; 11992265; 11743515; 9482850; 4061497; 2921319 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HSD17B4 | Rebecca Foulger reviewed gene: HSD17B4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | HSD17B4 |
Rebecca Foulger Added phenotypes D-BIFUNCTIONAL PROTEIN DEFICIENCY 261515 for gene: HSD17B4 Publications for gene HSD17B4 were changed from 4061497 to 9482850; 9345094; 11992265; 11743515; 10400999; 2921319 |
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| DDG2P v0.1 | HSD17B4 |
Rebecca Foulger gene: HSD17B4 was added gene: HSD17B4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSD17B4 were set to 4061497 Phenotypes for gene: HSD17B4 were set to PERRAULT SYNDROME |
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