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Intellectual disability - microarray and sequencing v4.53 GLRA2 Arina Puzriakova Tag Q3_22_rating was removed from gene: GLRA2.
Intellectual disability - microarray and sequencing v4.53 GLRA2 Arina Puzriakova reviewed gene: GLRA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability - microarray and sequencing v4.52 GLRA2 Arina Puzriakova Source NHS GMS was added to GLRA2.
Source Expert Review Green was added to GLRA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v3.1690 GLRA2 Sarah Leigh Tag Q3_22_rating tag was added to gene: GLRA2.
Intellectual disability - microarray and sequencing v3.1690 GLRA2 Sarah Leigh Classified gene: GLRA2 as Amber List (moderate evidence)
Intellectual disability - microarray and sequencing v3.1690 GLRA2 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Intellectual disability - microarray and sequencing v3.1690 GLRA2 Sarah Leigh Gene: glra2 has been classified as Amber List (Moderate Evidence).
Intellectual disability - microarray and sequencing v3.1689 GLRA2 Sarah Leigh edited their review of gene: GLRA2: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. PMID: 35294868 reports eight GLRA2 variants in affected females (n=8) and males (n=5). The variants in the females were de novo and c.887C>T,
p.Thr296Met (NC_000023.10, chrX: g.14627284C>T) was present in six individuals (PMID: 35294868, table 2) and was found to have a gain-of-function effect, which is in contrast to c.754C>T, p.Arg252Cys and c.407A>G, p.Asn136Ser (PMID: 2637014). All of the 13 GLRA2 variant carriers in PMID: 35294868 had developmental delay/intellectual disability and epilepsy was evident in 7/13 of the cases (PMID: 35294868, table 2). Supportive functional studies were also presented.; Changed rating: GREEN
Intellectual disability - microarray and sequencing v3.1689 GLRA2 Sarah Leigh Phenotypes for gene: GLRA2 were changed from Intellectual developmental disorder, X-linked syndromic, Pilorge type, OMIM:301076; intellectual developmental disorder, X-linked, syndromic, Pilorge type, MONDO:0024772 to Intellectual developmental disorder, X-linked syndromic, Pilorge type, OMIM:301076; intellectual developmental disorder, X-linked, syndromic, Pilorge type, MONDO:0024772
Intellectual disability - microarray and sequencing v3.1689 GLRA2 Sarah Leigh Phenotypes for gene: GLRA2 were changed from autism spectrum disorder to Intellectual developmental disorder, X-linked syndromic, Pilorge type, OMIM:301076; intellectual developmental disorder, X-linked, syndromic, Pilorge type, MONDO:0024772
Intellectual disability - microarray and sequencing v3.1688 GLRA2 Sarah Leigh Publications for gene: GLRA2 were set to 28588452; 26370147; 29057625
Intellectual disability - microarray and sequencing v3.1561 GLRA2 Konstantinos Varvagiannis reviewed gene: GLRA2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20531469, 20479760, 26370147, 28588452, 35294868; Phenotypes: Global developmental delay, Intellectual disability, Autism, Behavioral abnormality, Seizures, Microcephaly, Abnormality of eye movement; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)