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Intellectual disability - microarray and sequencing v3.1513 MAPRE2 Arina Puzriakova Tag for-review was removed from gene: MAPRE2.
Intellectual disability - microarray and sequencing 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 - microarray and sequencing v3.1510 MAPRE2 Sarah Leigh commented on gene: MAPRE2
Intellectual disability - microarray and sequencing v3.1509 MAPRE2 Arina Puzriakova Source NHS GMS was added to MAPRE2.
Intellectual disability - microarray and sequencing 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 - microarray and sequencing 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 - microarray and sequencing v3.516 MAPRE2 Arina Puzriakova Publications for gene: MAPRE2 were set to
Intellectual disability - microarray and sequencing 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 - microarray and sequencing v3.514 MAPRE2 Arina Puzriakova Classified gene: MAPRE2 as Amber List (moderate evidence)
Intellectual disability - microarray and sequencing 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 - microarray and sequencing v3.514 MAPRE2 Arina Puzriakova Gene: mapre2 has been classified as Amber List (Moderate Evidence).
Intellectual disability - microarray and sequencing 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 - microarray and sequencing v3.513 MAPRE2 Arina Puzriakova edited their review of gene: MAPRE2: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability - microarray and sequencing v3.513 MAPRE2 Arina Puzriakova Tag for-review tag was added to gene: MAPRE2.
Intellectual disability - microarray and sequencing 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 - microarray and sequencing 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 - microarray and sequencing MAPRE2 BRIDGE consortium edited their review of MAPRE2
Intellectual disability - microarray and sequencing MAPRE2 Louise Daugherty classified MAPRE2 as amber
Intellectual disability - microarray and sequencing MAPRE2 Louise Daugherty commented on MAPRE2
Intellectual disability - microarray and sequencing MAPRE2 BRIDGE consortium reviewed MAPRE2