Structural eye disease
Gene: NDUFB11
van Rahden: gene is associated with Microphthalmia with linear skin defects syndrome - however both cases reported do not have structural eye anomalies, one has lacrimal duct agenesis. No other papers report structural eye anomaliesCreated: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91
Publications
Phenotypes
Linear Skin Defects with Multiple Congenital Anomalies 3, LSDMCA3
Mode of inheritance for gene: NDUFB11 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)
Source NHS GMS was added to NDUFB11. Source Expert Review Red was added to NDUFB11. Publications for gene NDUFB11 were changed from to 25772934 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Source Expert Review Amber was added to NDUFB11. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
gene: NDUFB11 was added gene: NDUFB11 was added to Structural eye disease. Sources: London North GLH Mode of inheritance for gene: NDUFB11 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NDUFB11 were set to Linear Skin Defects with Multiple Congenital Anomalies 3, LSDMCA3, 300952