Incidentalome

Gene: MYLK

Green List (high evidence)

Amber for bi-allelic variants and gastrointestinal neuromuscular disease:
PMID: 28602422;
- 3 affecteds from 2 consanguineous families. each family is homozygous for 1x fs and 1x splice (abnormal splicing proven).
- IHC of 1 affected showed no protein expression in intestine and bladder
- For both families, no cardiac problems were reported for the carrier parents.

Created: 10 Aug 2022, 5:12 a.m. | Last Modified: 10 Aug 2022, 5:12 a.m.

Panel Version: 0.112

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Aortic aneurysm, familial thoracic 7, MIM#613780; Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#249210

Publications

• 28602422

Green List (high evidence)

"Definitive" by Clingen Aortopathy Working Group.

Green on PanelApp UK.

Association between variants in this gene and aortic dissection established in multiple individuals and a 5-generation family (PMID 27586135;21055718;25907466).

Created: 25 Jun 2020, 4:05 a.m. | Last Modified: 25 Jun 2020, 4:05 a.m.

Panel Version: 0.26

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Aortic aneurysm, familial thoracic 7, MIM#600922

Publications

• 30071989
• 27586135
• 21055718
• 25907466

Variants in this GENE are reported as part of current diagnostic practice