Fetal anomalies
Gene: MYL9
The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 10 Oct 2023, 3:39 p.m. | Last Modified: 10 Oct 2023, 3:39 p.m.
Panel Version: 3.111
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment on list classification: There is now sufficient evidence to rate this gene as Green at the next GMS panel update.Created: 9 May 2023, 1 p.m. | Last Modified: 9 May 2023, 1 p.m.
Panel Version: 3.75
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.Created: 9 May 2023, 12:47 p.m. | Last Modified: 9 May 2023, 12:47 p.m.
Panel Version: 3.73
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.Created: 8 Feb 2021, 11:44 a.m. | Last Modified: 8 Feb 2021, 11:44 a.m.
Panel Version: 1.620
Three unrelated families
Possibly 4th in PMID: 33264186 but specifics including genotype were lacking and overlapping institute/hospital as PMID: 33031641Created: 3 Feb 2022, 10:47 p.m. | Last Modified: 3 Feb 2022, 10:47 p.m.
Panel Version: 1.826
Second family reported.Created: 9 Dec 2020, 6:53 a.m. | Last Modified: 9 Dec 2020, 6:53 a.m.
Panel Version: 1.121
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365
Publications
1 case (MMIH), no other functional studies/mouse models etc. - PMID: 29453416.Created: 28 Apr 2020, 8:06 p.m. | Last Modified: 28 Apr 2020, 8:06 p.m.
Panel Version: 1.11
Phenotypes
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH)
Publications
Comment on list classification: Kept rating as Red to match review by Rhiannon Mellis (GOSH).Created: 28 Apr 2020, 8:14 p.m. | Last Modified: 28 Apr 2020, 8:14 p.m.
Panel Version: 1.18
Added to panel as suggested by Rhiannon Mellis (GOSH).
Sources: Expert listCreated: 28 Apr 2020, 7:54 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH)
Tag Q2_23_promote_green was removed from gene: MYL9.
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)
Gene: myl9 has been classified as Amber List (Moderate Evidence).
Publications for gene: MYL9 were set to 29453416; 33031641
Tag Q2_23_promote_green tag was added to gene: MYL9.
Phenotypes for gene: MYL9 were changed from Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH) to Megacystis-microcolon-intestinal hypoperistalsis syndrome 4, OMIM:619365
Publications for gene: MYL9 were set to 29453416
Gene: myl9 has been classified as Amber List (Moderate Evidence).
Publications for gene: MYL9 were set to
Gene: myl9 has been classified as Red List (Low Evidence).
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)