1. Panels
  2. Fetal anomalies
  3. MYL9
Genes in panel
Prev Next

Fetal anomalies

Gene: MYL9

Green List (high evidence)
MYL9 (myosin light chain 9)
EnsemblGeneIds (GRCh38): ENSG00000101335
EnsemblGeneIds (GRCh37): ENSG00000101335
OMIM: 609905, Gene2Phenotype
MYL9 is in 2 panels

5 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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

Created: 10 Oct 2023, 3:39 p.m.
Last Modified: 10 Oct 2023, 3:39 p.m.
Panel version: 3.111

Arina Puzriakova (Genomics England Curator)

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
Created: 8 Feb 2021, 11:44 a.m.
Last Modified: 8 Feb 2021, 11:44 a.m.
Panel version: 3.73

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three unrelated families

Possibly 4th in PMID: 33264186 but specifics including genotype were lacking and overlapping institute/hospital as PMID: 33031641
Created: 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

Created: 9 Dec 2020, 6:53 a.m.
Last Modified: 3 Feb 2022, 10:47 p.m.
Panel version: 1.826

Rhiannon Mellis (Great Ormond Street Hospital)

Red List (low evidence)

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

Created: 28 Apr 2020, 8:06 p.m.
Last Modified: 28 Apr 2020, 8:06 p.m.
Panel version: 1.11

Rebecca Foulger (Genomics England curator)

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 list
Created: 28 Apr 2020, 7:54 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH)

Created: 28 Apr 2020, 7:54 p.m.

Panel version: 1.10

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome 4, OMIM:619365
OMIM
609905
Clinvar variants
Variants in MYL9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Oct 2023, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_23_promote_green was removed from gene: MYL9.

10 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

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)

9 May 2023, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: myl9 has been classified as Amber List (Moderate Evidence).

9 May 2023, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: MYL9 were set to 29453416; 33031641

9 May 2023, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_23_promote_green tag was added to gene: MYL9.

9 May 2023, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MYL9 were changed from Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH) to Megacystis-microcolon-intestinal hypoperistalsis syndrome 4, OMIM:619365

8 Feb 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: MYL9 were set to 29453416

8 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: myl9 has been classified as Amber List (Moderate Evidence).

28 Apr 2020, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: MYL9 were set to

28 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: myl9 has been classified as Red List (Low Evidence).

28 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

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)