Structural eye disease
Gene: COL18A1
Keren, one family with Knoblock syndrome and colobomas; Khan: five families with ectopia lentisCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Knobloch syndrome, type 1; 267750
Publications
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Keren, one family with Knoblock syndrome and colobomas; Khan: five families with ectopia lentisCreated: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Knobloch syndrome, type 1; 267750
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: COL18A1 were changed from Knobloch syndrome, type 1, 267750 to Knobloch syndrome, type 1, OMIM:267750
Publications for gene: COL18A1 were set to 17546652; 22399687
gene: COL18A1 was added gene: COL18A1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: COL18A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL18A1 were set to 17546652; 22399687 Phenotypes for gene: COL18A1 were set to Knobloch syndrome, type 1, 267750