Structural eye disease
Gene: TFAP2A
Milunsky five families. Gestri at least two families plus zebrafish modelCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Branchiooculofacial syndrome (includes ocular anomalies such as microphthalmia and lacrimal duct obstruction); 113620
Publications
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Milunsky five families. Gestri at least two families plus zebrafish modelCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Branchiooculofacial syndrome (includes ocular anomalies such as microphthalmia and lacrimal duct obstruction), 113620
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to TFAP2A. Source Expert Review Green was added to TFAP2A. Added phenotypes Branchiooculofacial syndrome (includes ocular anomalies such as microphthalmia and lacrimal duct obstruction), 113620 for gene: TFAP2A Publications for gene TFAP2A were changed from 10767004, 18423521 to 19685247; 18423521 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: TFAP2A was added gene: TFAP2A was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: TFAP2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TFAP2A were set to 10767004, 18423521 Phenotypes for gene: TFAP2A were set to Branchiooculofacial syndrome , 113620