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Fetal anomalies v6.157 EMX2 Achchuthan Shanmugasundram Tag Q3_25_expert_review was removed from gene: EMX2.
Tag Q3_25_demote_amber was removed from gene: EMX2.
Fetal anomalies v6.157 EMX2 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval. The GMS reviewers noted as follows: Multiple patients reported in 1997 with schizencephaly and de novo EMX2 variants detected by targeted sequencing (PMID:9359037). However, subsequent sequencing studies in schizencephaly cohorts have not found any further cases (84 cases in PMID:17506092, 39 cases in PMID:18409201, 52 cases in PMID:20157829). Red on Australian PanelApp. Hence, the gene should be demoted from green rating.; to: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.

The GMS reviewers noted as follows:
Multiple patients reported in 1997 with schizencephaly and de novo EMX2 variants detected by targeted sequencing (PMID:9359037). However, subsequent sequencing studies in schizencephaly cohorts have not found any further cases (84 cases in PMID:17506092, 39 cases in PMID:18409201, 52 cases in PMID:20157829). Red on Australian PanelApp. Hence, the gene should be demoted from green rating.
Fetal anomalies v6.157 EMX2 Achchuthan Shanmugasundram reviewed gene: EMX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.156 EMX2 Achchuthan Shanmugasundram Source NHS GMS was added to EMX2.
Source Expert Review Amber was added to EMX2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v6.90 EMX2 Ida Ertmanska commented on gene: EMX2: Comment on list classification: There are at least 4 unrelated families where individuals harbouring de novo variants in EMX2 have schizencephaly - a rare severe brain malformation, leading to neurologic deficits and developmental delay (PMIDs: 8528262, 9153481, 9359037). However, the 1996-1997 studies are limited by their sequencing method (targeted gene sequencing). Subsequent studies of 3 different schizencephaly patient cohorts showed that none of the 175 affected individuals carried pathogenic EMX2 mutations (PMIDs: 17506092, 18409201, 20157829).
No other schizencephaly cases with EMX2 variants were published in literature since 1997. Other genes, such as SIX3 and SHH, have been putatively linked to schizencephaly (PMID: 20157829). Furthermore, schizencephaly may stem from non-genetic causes, such as in utero viral infections, teratogen exposure, maternal trauma, and more (PMID: 18409201). Due to outdated / conflicting evidence, this gene should be downgraded to Amber for Fetal anomalies.
Fetal anomalies v6.90 EMX2 Ida Ertmanska reviewed gene: EMX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 8528262, 9153481, 9359037, 17506092, 18409201, 20157829; Phenotypes: Schizencephaly, OMIM:269160, schizencephaly, MONDO:0010011; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.89 EMX2 Eleanor Williams Tag Q3_25_expert_review tag was added to gene: EMX2.
Fetal anomalies v6.89 EMX2 Eleanor Williams Added comment: Comment on phenotypes: OMIM phenotype accessed on 29th September 2025
Fetal anomalies v6.89 EMX2 Eleanor Williams Phenotypes for gene: EMX2 were changed from Schizencephaly, 269160 to Schizencephaly, OMIM:269160; schizencephaly, MONDO:0010011
Fetal anomalies v6.88 EMX2 Eleanor Williams Publications for gene: EMX2 were set to
Fetal anomalies v6.87 EMX2 Eleanor Williams Tag Q3_25_demote_amber tag was added to gene: EMX2.
Fetal anomalies v1.836 EMX2 Arina Puzriakova Tag for-review was removed from gene: EMX2.
Fetal anomalies v1.836 EMX2 Arina Puzriakova commented on gene: EMX2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.835 EMX2 Arina Puzriakova Source Expert Review Green was added to EMX2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.399 EMX2 Arina Puzriakova Classified gene: EMX2 as Amber List (moderate evidence)
Fetal anomalies v1.399 EMX2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.399 EMX2 Arina Puzriakova Gene: emx2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.398 EMX2 Arina Puzriakova Tag for-review tag was added to gene: EMX2.
Fetal anomalies v1.215 EMX2 Rhiannon Mellis gene: EMX2 was added
gene: EMX2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: EMX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EMX2 were set to Schizencephaly, 269160
Review for gene: EMX2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Cerebral malformations; Malformations of cortical development
Sources: Expert list