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Intellectual disability v3.1513 MAPRE2 Arina Puzriakova Tag for-review was removed from gene: MAPRE2.
Intellectual disability v3.1510 MAPRE2 Sarah Leigh commented on gene: MAPRE2: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Intellectual disability v3.1510 MAPRE2 Sarah Leigh commented on gene: MAPRE2
Intellectual disability v3.1509 MAPRE2 Arina Puzriakova Source NHS GMS was added to MAPRE2.
Intellectual disability v3.1509 MAPRE2 Arina Puzriakova Source Expert Review Green was added to MAPRE2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.517 MAPRE2 Arina Puzriakova Phenotypes for gene: MAPRE2 were changed from Circumferential Skin Creases Kunze Type to Symmetric circumferential skin creases, congenital, 2, 616734
Intellectual disability v3.516 MAPRE2 Arina Puzriakova Publications for gene: MAPRE2 were set to
Intellectual disability v3.515 MAPRE2 Arina Puzriakova Mode of inheritance for gene: MAPRE2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability v3.514 MAPRE2 Arina Puzriakova Classified gene: MAPRE2 as Amber List (moderate evidence)
Intellectual disability v3.514 MAPRE2 Arina Puzriakova Added comment: Comment on list classification: There are sufficient cases to promote this gene rating to Green at the next GMS panel update (added 'for-review' tag). Also not all patients present other associated features for which this gene is on a panel (e.g. Clefting, Structural eye disease) and so ID should be a sufficient indication for detecting these cases.
Intellectual disability v3.514 MAPRE2 Arina Puzriakova Gene: mapre2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.513 MAPRE2 Arina Puzriakova edited their review of gene: MAPRE2: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability v3.513 MAPRE2 Arina Puzriakova edited their review of gene: MAPRE2: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v3.513 MAPRE2 Arina Puzriakova Tag for-review tag was added to gene: MAPRE2.
Intellectual disability v3.513 MAPRE2 Arina Puzriakova reviewed gene: MAPRE2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26637975, 31903734, 31502381; Phenotypes: Symmetric circumferential skin creases, congenital, 2, 616734; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v3.3 MAPRE2 Zornitza Stark reviewed gene: MAPRE2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26637975; Phenotypes: Symmetric circumferential skin creases, congenital, 2, MIM# 616734; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability MAPRE2 BRIDGE consortium edited their review of MAPRE2
Intellectual disability MAPRE2 Louise Daugherty classified MAPRE2 as amber
Intellectual disability MAPRE2 Louise Daugherty commented on MAPRE2
Intellectual disability MAPRE2 BRIDGE consortium reviewed MAPRE2