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Fetal anomalies v6.121 PAK2 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PAK2.
Tag Q3_25_NHS_review was removed from gene: PAK2.
Fetal anomalies v6.120 PAK2 Achchuthan Shanmugasundram reviewed gene: PAK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.119 PAK2 Arina Puzriakova Source Expert Review Green was added to PAK2.
Source NHS GMS was added to PAK2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.63 PAK2 Arina Puzriakova Phenotypes for gene: PAK2 were changed from Knobloch syndrome 2 to Knobloch syndrome 2, OMIM:618458
Fetal anomalies v6.62 PAK2 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PAK2.
Tag Q3_25_NHS_review tag was added to gene: PAK2.
Fetal anomalies v6.29 PAK2 Arina Puzriakova reviewed gene: PAK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.28 PAK2 Sarah Graham commented on gene: PAK2: This gene and phenotype were reviewed during meetings in June & July 2025. 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 & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.24 PAK2 Sarah Graham reviewed gene: PAK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 40262506, 37808560, 39876536, 33693784, 38894571, 39994693; Phenotypes: Knobloch syndrome 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.21 PAK2 Arina Puzriakova gene: PAK2 was added
gene: PAK2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PAK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAK2 were set to 39994693; 40262506; 33693784; 38894571; 37808560; 39876536
Phenotypes for gene: PAK2 were set to Knobloch syndrome 2
Fetal anomalies v5.52 NUAK2 Achchuthan Shanmugasundram Phenotypes for gene: NUAK2 were changed from Anencephaly; ?Anencephaly 2, OMIM:619452 to ?Anencephaly 2, OMIM:619452
Fetal anomalies v5.16 NUAK2 Achchuthan Shanmugasundram commented on gene: NUAK2
Fetal anomalies v5.15 NUAK2 Samantha Doyle reviewed gene: NUAK2: Rating: RED; Mode of pathogenicity: ; Publications: 32845958; Phenotypes: Anencephaly 2, MIM#619452; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.13 NUAK2 Achchuthan Shanmugasundram Source NHS GMS was added to NUAK2.
Source Expert Review Red was added to NUAK2.
Added phenotypes ?Anencephaly 2, OMIM:619452 for gene: NUAK2
Publications for gene: NUAK2 were updated from 32845958; 22689267 to 22689267; 32845958
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v1.185 NUAK2 Arina Puzriakova Tag watchlist tag was added to gene: NUAK2.
Fetal anomalies v1.185 NUAK2 Arina Puzriakova Publications for gene: NUAK2 were set to 32845958
Fetal anomalies v1.184 NUAK2 Arina Puzriakova Classified gene: NUAK2 as Amber List (moderate evidence)
Fetal anomalies v1.184 NUAK2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Single consanguineous family with three consecutive fetuses with anencephaly. Exome sequencing revealed a recessive 21-bp in-frame deletion in NUAK2 segregating with the disease. Pathogenicity is supported by in vitro and animal model data.

Rating Amber, awaiting further cases/clinical evidence prior to inclusion as diagnostic-grade (added 'watchlist' tag)
Fetal anomalies v1.184 NUAK2 Arina Puzriakova Gene: nuak2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.97 NUAK2 Zornitza Stark gene: NUAK2 was added
gene: NUAK2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: NUAK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUAK2 were set to 32845958
Phenotypes for gene: NUAK2 were set to Anencephaly
Review for gene: NUAK2 was set to AMBER
Added comment: Novel gene described in single consanguineous family with three FDIU and extensive anencephaly. Hom inframe del affecting functional kinase domain, parents confirmed carriers. Good functional data showing loss of enzyme function and mouse model with 40% anencephaly after knock-out.
Sources: Literature
Fetal anomalies v0.135 AK2 Rebecca Foulger Source Expert Review Red was added to AK2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.134 AK2 Rebecca Foulger edited their review of gene: AK2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted AK2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.9 AK2 Rebecca Foulger reviewed gene: AK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 AK2 Rebecca Foulger gene: AK2 was added
gene: AK2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AK2 were set to RETICULAR DYSGENESIS