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| Structural eye disease v0.76 | ALDH18A1 | Nicola Ragge reviewed gene: ALDH18A1: Rating: RED; Mode of pathogenicity: ; Publications: 21739576; Phenotypes: Cutis laxa, autosomal recessive, type IIIA, 219150; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | ALDH18A1 | Ivone Leong edited their review of gene: ALDH18A1: Changed phenotypes: Cutis laxa, autosomal recessive, type IIIA, 219150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | ALDH18A1 | Ivone Leong reviewed gene: ALDH18A1: Rating: RED; Mode of pathogenicity: ; Publications: 21739576; Phenotypes: Cataract 33, 611391; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | ALDH18A1 |
Ivone Leong gene: ALDH18A1 was added gene: ALDH18A1 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ALDH18A1 were set to 21739576 Phenotypes for gene: ALDH18A1 were set to Cutis laxa, autosomal recessive, type IIIA, 219150 |
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