Structural eye disease
Gene: SALL2
Kelberman: one family plus mouse modelCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Coloboma, ocular, autosomal recessive; 216820
Publications
Mode of pathogenicity
Other - please provide details in the comments
Promoted from red to amber based on the expert review provided.Created: 25 Apr 2019, 10:04 a.m.
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Kelberman: one family plus mouse modelCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Coloboma, ocular, autosomal recessive, 216820
Publications
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Source Expert Review Amber was added to SALL2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Phenotypes for gene: SALL2 were changed from Coloboma, ocular, autosomal recessive, 216820; Coloboma, ocular, autosomal recessive 216820 to Coloboma, ocular, autosomal recessive, 216820
Source NHS GMS was added to SALL2. Added phenotypes Coloboma, ocular, autosomal recessive, 216820 for gene: SALL2
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