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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)
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
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