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Fetal anomalies v3.111 | MYL9 | Sarah Leigh Tag Q2_23_promote_green was removed from gene: MYL9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.111 | MYL9 | Sarah Leigh reviewed gene: MYL9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.110 | MYL9 |
Sarah Leigh Source Expert Review Green was added to MYL9. Source NHS GMS was added to MYL9. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.75 | MYL9 | Arina Puzriakova Classified gene: MYL9 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.75 | MYL9 | Arina Puzriakova Added comment: Comment on list classification: There is now sufficient evidence to rate this gene as Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.75 | MYL9 | Arina Puzriakova Gene: myl9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.74 | MYL9 | Arina Puzriakova Publications for gene: MYL9 were set to 29453416; 33031641 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.73 | MYL9 | Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: MYL9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.73 | MYL9 | Arina Puzriakova commented on gene: MYL9: Third family reported by Billon et al. 2020 (PMID: 32621347) with the same homozygous exon 4 deletion of MYL9 as the one detected by Moreno et al. 2018 (PMID: 29453416) in an unrelated case. Family includes three sibs affected with megacystis, intestinal malrotation, small and thin colon, as well as some dysmorphic features. Fetopathological examination confirmed the diagnosis of MMIHS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.73 | MYL9 | Arina Puzriakova Phenotypes for gene: MYL9 were changed from Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH) to Megacystis-microcolon-intestinal hypoperistalsis syndrome 4, OMIM:619365 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.826 | MYL9 |
Zornitza Stark changed review comment from: unrelated families Possibly 4th in PMID: 33264186 but specifics including genotype were lacking and overlapping institute/hospital as PMID: 33031641; to: Three unrelated families Possibly 4th in PMID: 33264186 but specifics including genotype were lacking and overlapping institute/hospital as PMID: 33031641 |
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Fetal anomalies v1.826 | MYL9 |
Zornitza Stark edited their review of gene: MYL9: Added comment: unrelated families Possibly 4th in PMID: 33264186 but specifics including genotype were lacking and overlapping institute/hospital as PMID: 33031641; Changed rating: GREEN; Changed publications to: 29453416, 33031641, 32621347, 33264186; Changed phenotypes to: Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365 |
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Fetal anomalies v1.621 | MYL9 | Arina Puzriakova Publications for gene: MYL9 were set to 29453416 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.620 | MYL9 | Arina Puzriakova Classified gene: MYL9 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.620 | MYL9 |
Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Amber as there are now two unrelated families presenting features of MMIHS, associated with different biallelic variants in the MYL9 gene (PMIDs: 29453416; 33031641). Additional cases/functional evidence required prior to inclusion as diagnostic-grade. |
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Fetal anomalies v1.620 | MYL9 | Arina Puzriakova Gene: myl9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.121 | MYL9 | Zornitza Stark reviewed gene: MYL9: Rating: AMBER; Mode of pathogenicity: None; Publications: 29453416, 33031641; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.19 | MYL9 | Rebecca Foulger Publications for gene: MYL9 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.18 | MYL9 | Rebecca Foulger Classified gene: MYL9 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.18 | MYL9 | Rebecca Foulger Added comment: Comment on list classification: Kept rating as Red to match review by Rhiannon Mellis (GOSH). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.18 | MYL9 | Rebecca Foulger Gene: myl9 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.11 | MYL9 | Rhiannon Mellis reviewed gene: MYL9: Rating: RED; Mode of pathogenicity: ; Publications: 29453416; Phenotypes: Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH); Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.10 | MYL9 |
Rebecca Foulger gene: MYL9 was added gene: MYL9 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MYL9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYL9 were set to Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH) Added comment: Added to panel as suggested by Rhiannon Mellis (GOSH). Sources: Expert list |