Structural eye disease
Gene: HMGB3
Scott: one family with colobomatours microphthalmiaCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
?Microphthalmia, syndromic 13; 300915
Publications
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). Scott: one family with colobomatours microphthalmiaCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
?Microphthalmia, syndromic 13, 300915
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source Expert Review Amber was added to HMGB3. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Phenotypes for gene: HMGB3 were changed from ?Microphthalmia, syndromic 13, 300915; Microphthalmia, syndromic 13, 300915 to ?Microphthalmia, syndromic 13, 300915
Source NHS GMS was added to HMGB3. Mode of inheritance for gene HMGB3 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes ?Microphthalmia, syndromic 13, 300915 for gene: HMGB3 Publications for gene HMGB3 were changed from 4998085 to 24993872
gene: HMGB3 was added gene: HMGB3 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: HMGB3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: HMGB3 were set to 4998085 Phenotypes for gene: HMGB3 were set to Microphthalmia, syndromic 13, 300915