Structural eye disease
Gene: ADAMTSL4
Christensen: same homozygous variant described in five norwegian families with ectopia lentis, in four famiilies there was a dislocated pupil and in two families lens coloboma, Green one family with ectopia lentis and displaced pupils; Neuhahn twelve familiesCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ectopia lentis, isolated, autosomal recessive; Ectopia lentis et pupillae; 225100; 225200
Publications
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Christensen: same homozygous variant described in five norwegian families with ectopia lentis, in four famiilies there was a dislocated pupil and in two families lens coloboma, Green one family with ectopia lentis and displaced pupils; Neuhahn twelve familiesCreated: 18 Apr 2019, 10:37 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ectopia lentis, isolated, autosomal recessive; Ectopia lentis et pupillae; 225100; 225200
Publications
gene: ADAMTSL4 was added gene: ADAMTSL4 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ADAMTSL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTSL4 were set to 20141359; 25975359; 20702823 Phenotypes for gene: ADAMTSL4 were set to Ectopia lentis et pupillae, 225200; Ectopia lentis, isolated, autosomal recessive, 225100