Paediatric disorders - additional genes
Gene: MYH11EnsemblGeneIds (GRCh38): ENSG00000133392
EnsemblGeneIds (GRCh37): ENSG00000133392
OMIM: 160745, Gene2Phenotype
MYH11 is in 13 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 24 Feb 2025, 11:46 a.m. | Last Modified: 24 Feb 2025, 11:46 a.m.
Panel Version: 6.12
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Sarah Leigh (Genomics England Curator)
Biallelic MYH11 variants have been associated with Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 (OMIM:619351), and as limited Gen2Phen gene for the same condition. PMIDs 29575632 & 29575632 report five MYH11 variants in three unrelated cases of OMIM:619351. The unaffected parents of these cases were heterozygous for the MYH11 variant.Created: 13 Aug 2024, 9:37 a.m. | Last Modified: 13 Aug 2024, 9:37 a.m.
Panel Version: 5.5
Comment on phenotypes: Monoallelic Aortic MYH11 variants are associated with: aneurysm, familial thoracic 4, OMIM:132900, MONDO:0007568 and Visceral myopathy 2, OMIM:619350, MONDO:0859157Created: 13 Aug 2024, 9:25 a.m. | Last Modified: 13 Aug 2024, 9:25 a.m.
Panel Version: 5.3
Zornitza Stark (Australian Genomics)
Heterozygous dominant negative MYH11 pathogenic variants have been associated with thoracic aortic aneurysm and dissection while biallelic null alleles have been associated with megacystis microcolon intestinal hypoperistalsis syndrome. Recent report of two families with heterozygous protein‐elongating MYH11 variants affecting the SM2 isoforms of MYH11 as a cause for severe gastrointestinal dysmotility. The authors hypothesise that the mechanistic pathogenesis of this disease, dominant hypercontractile loss‐of‐function, is distinct from those implicated in other diseases involving MYH11 dysfunction.
Sources: Expert listCreated: 23 Apr 2020, 3:30 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive; Dominant smooth muscle dysmotility syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 OMIM:619351, MONDO:0025708
- OMIM
- 160745
- Clinvar variants
- Variants in MYH11
- Penetrance
- None
- Publications
- Panels with this gene
-
- Unexplained young onset end-stage renal disease - additional genes
- Thoracic aortic aneurysm or dissection (GMS)
- Paediatric disorders - additional genes
- Unexplained kidney failure in young people
- DDG2P
- Fetal anomalies
- Thoracic aortic aneurysm or dissection
- Gastrointestinal neuromuscular disorders
- Ehlers Danlos syndrome with a likely monogenic cause
- Paediatric pseudo-obstruction syndrome
- Cerebral vascular malformations
- Pneumothorax - familial
- CAKUT
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_24_promote_green was removed from gene: MYH11.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to MYH11. Source NHS GMS was added to MYH11. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green tag was added to gene: MYH11.
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: MYH11 were set to 31944481; 29575632
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: MYH11 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: MYH11 were changed from Aortic aneurysm, familial thoracic 4, OMIM:132900, MONDO:0007568; Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 OMIM:619351, MONDO:0025708; Visceral myopathy 2, OMIM:619350, MONDO:0859157 to Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 OMIM:619351, MONDO:0025708
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sarah Leigh (Genomics England Curator)gene: MYH11 was added gene: MYH11 was added to Paediatric disorders - additional genes. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: MYH11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYH11 were set to 31944481; 29575632 Phenotypes for gene: MYH11 were set to Aortic aneurysm, familial thoracic 4, OMIM:132900, MONDO:0007568; Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 OMIM:619351, MONDO:0025708; Visceral myopathy 2, OMIM:619350, MONDO:0859157