Structural eye disease
Gene: MAPRE2
Isrie reports four families with CSCSC2 and MAPRE variants. One case has homozygous missense parents heterozygous, one case was homozygous missense, parents unavailable, one case was heterozygous missense de novo, last one is heterozygous nonsense inherited from mother with similar facial phenotype. There is no mention of an eye phenotype in the zebrafish model.Created: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91
Publications
Phenotypes
Skin Creases, Congenital Symmetric Circumferential, 2, CSCSC2
Phenotypes for gene: MAPRE2 were changed from Skin Creases, Congenital Symmetric Circumferential, 2, CSCSC2, 616734 to Symmetric circumferential skin creases, congenital, 2, 616734
Publications for gene: MAPRE2 were set to 26637975
Mode of inheritance for gene: MAPRE2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Source Expert Review Green was added to MAPRE2. Source NHS GMS was added to MAPRE2. Publications for gene MAPRE2 were changed from to 26637975 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Source Expert Review Amber was added to MAPRE2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
gene: MAPRE2 was added gene: MAPRE2 was added to Structural eye disease. Sources: London North GLH Mode of inheritance for gene: MAPRE2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MAPRE2 were set to Skin Creases, Congenital Symmetric Circumferential, 2, CSCSC2, 616734