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Fetal anomalies v6.152 NOVA2 Arina Puzriakova Added phenotypes neurodevelopmental disorder with hypotonia, neurological features, and brain abnormalities for gene: NOVA2
Fetal anomalies v6.150 NOVA2 Arina Puzriakova edited their review of gene: NOVA2: Changed rating: GREEN
Fetal anomalies v6.149 NOVA2 Arina Puzriakova commented on gene: NOVA2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.148 NOVA2 Arina Puzriakova commented on gene: NOVA2
Fetal anomalies v6.147 NOVA2 Esther Kinning reviewed gene: NOVA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 35607920, 32197073; Phenotypes: neurodevelopmental disorder with hypotonia, neurological features, and brain abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 NOVA2 Arina Puzriakova Source Expert Review Green was added to NOVA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.148 NOVA2 Achchuthan Shanmugasundram Phenotypes for gene: NOVA2 were changed from Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM:618859; Intellectual disability with ataxia/spasticity to Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM:618859
Fetal anomalies v4.36 NOVA2 Achchuthan Shanmugasundram commented on gene: NOVA2
Fetal anomalies v4.35 NOVA2 Natalie Bibb reviewed gene: NOVA2: Rating: AMBER; Mode of pathogenicity: ; Publications: 32197073; Phenotypes: Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM:618859; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.34 NOVA2 Achchuthan Shanmugasundram Source NHS GMS was added to NOVA2.
Mode of inheritance for gene NOVA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM:618859 for gene: NOVA2
Publications for gene: NOVA2 were updated from to 32197073
Fetal anomalies v0.9 NOVA2 Rebecca Foulger reviewed gene: NOVA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 NOVA2 Rebecca Foulger gene: NOVA2 was added
gene: NOVA2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NOVA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NOVA2 were set to Intellectual disability with ataxia/spasticity