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Structural eye disease v0.76 | SALL2 | Nicola Ragge reviewed gene: SALL2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: 24412933; Phenotypes: Coloboma, ocular, autosomal recessive, 216820; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.75 | SALL2 | Ivone Leong commented on gene: SALL2: Promoted from red to amber based on the expert review provided. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.74 | SALL2 |
Ivone Leong Source Expert Review Amber was added to SALL2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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Structural eye disease v0.48 | SALL2 | Ivone Leong edited their review of gene: SALL2: Changed phenotypes: Coloboma, ocular, autosomal recessive, 216820 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.38 | SALL2 | Ivone Leong reviewed gene: SALL2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: 24412933; Phenotypes: Senior-Loken syndrome 7, 613615, Bardet-Biedl syndrome 16, 615993; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.35 | SALL2 | Ivone Leong Phenotypes for gene: SALL2 were changed from Coloboma, ocular, autosomal recessive, 216820; Coloboma, ocular, autosomal recessive 216820 to Coloboma, ocular, autosomal recessive, 216820 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.15 | SALL2 |
Ivone Leong Source NHS GMS was added to SALL2. Added phenotypes Coloboma, ocular, autosomal recessive, 216820 for gene: SALL2 |
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Structural eye disease v0.2 | SALL2 |
Ellen McDonagh gene: SALL2 was added gene: SALL2 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: SALL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SALL2 were set to 24412933 Phenotypes for gene: SALL2 were set to Coloboma, ocular, autosomal recessive 216820 |