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Fetal anomalies v6.152 ASXL2 Arina Puzriakova Added phenotypes Shashi-Pena syndrome, OMIM:617190 for gene: ASXL2
Fetal anomalies v6.150 ASXL2 Arina Puzriakova edited their review of gene: ASXL2: Changed rating: GREEN
Fetal anomalies v6.149 ASXL2 Arina Puzriakova commented on gene: ASXL2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.148 ASXL2 Arina Puzriakova commented on gene: ASXL2
Fetal anomalies v6.147 ASXL2 Soo-Mi Park reviewed gene: ASXL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33751773, 27693232, 35182806; Phenotypes: Shashi-Pena syndrome, OMIM:617190; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 ASXL2 Arina Puzriakova Source Expert Review Green was added to ASXL2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.115 ASXL2 Achchuthan Shanmugasundram Phenotypes for gene: ASXL2 were changed from Developmental delay, macrocephaly, and dysmorphic features; Shashi-Pena syndrome, OMIM:617190 to Shashi-Pena syndrome, OMIM:617190
Fetal anomalies v4.36 ASXL2 Achchuthan Shanmugasundram commented on gene: ASXL2: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.35 ASXL2 Achchuthan Shanmugasundram reviewed gene: ASXL2: Rating: AMBER; Mode of pathogenicity: ; Publications: 27693232, 33751773; Phenotypes: Shashi-Pena syndrome, OMIM:617190; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.34 ASXL2 Achchuthan Shanmugasundram Source NHS GMS was added to ASXL2.
Mode of inheritance for gene ASXL2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Shashi-Pena syndrome, OMIM:617190 for gene: ASXL2
Publications for gene: ASXL2 were updated from to 27693232; 33751773
Fetal anomalies v0.9 ASXL2 Rebecca Foulger reviewed gene: ASXL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 ASXL2 Rebecca Foulger gene: ASXL2 was added
gene: ASXL2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ASXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ASXL2 were set to Developmental delay, macrocephaly, and dysmorphic features