Gastrointestinal neuromuscular disease
Gene: MYL9

MYL9 (myosin light chain 9)
EnsemblGeneIds (GRCh38): ENSG00000101335
EnsemblGeneIds (GRCh37): ENSG00000101335
OMIM: 609905, Gene2Phenotype
MYL9 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID:32621347; 3rd family with non-consanguineous parents and 3 TOPs.
Created: 20 Jan 2022, 10:27 p.m. | Last Modified: 20 Jan 2022, 10:27 p.m.

Panel Version: 1.15

Second unrelated family reported, bi-allelic LOF variants, promote to Amber.
Created: 24 Nov 2020, 9:55 a.m. | Last Modified: 24 Nov 2020, 9:55 a.m.

Panel Version: 0.30

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365

Publications

Created: 24 Nov 2020, 9:55 a.m.
Last Modified: 24 Nov 2020, 9:55 a.m.
Panel version: 1.15

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Single consanguineous family reported with a homozygous deletion including the last exon of the gene. No functional evidence.
Sources: Literature
Created: 3 Jul 2020, 6:03 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Megacystis-microcolon-intestinal hypoperistalsis syndrome

Publications

29453416

Created: 3 Jul 2020, 6:03 a.m.

Panel version: 0.22

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Literature

Phenotypes

Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365

OMIM

609905

Clinvar variants

Variants in MYL9

Penetrance

None

Publications

Panels with this gene