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| DDG2P v6.449 | ATXN7L3 | Ida Ertmanska Phenotypes for gene: ATXN7L3 were changed from ATXN7L3-related developmental delay, hypotonia and facial dysmorphism to ATXN7L3-related developmental delay, hypotonia and facial dysmorphism; Harel-Tora neurodevelopmental syndrome, OMIM:621377 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.435 | ATXN7L3 | Ida Ertmanska Tag gene-checked tag was added to gene: ATXN7L3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ATXN7L3 | Achchuthan Shanmugasundram reviewed gene: ATXN7L3: Rating: GREEN; Mode of pathogenicity: ; Publications: 38753057; Phenotypes: ATXN7L3-related developmental delay, hypotonia and facial dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.16 | ATXN7L3 |
Achchuthan Shanmugasundram gene: ATXN7L3 was added gene: ATXN7L3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ATXN7L3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATXN7L3 were set to 38753057 Phenotypes for gene: ATXN7L3 were set to ATXN7L3-related developmental delay, hypotonia and facial dysmorphism |
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