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  2. Gastrointestinal neuromuscular disease
  3. MYLK
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Gastrointestinal neuromuscular disease

Gene: MYLK

Amber List (moderate evidence)
MYLK (myosin light chain kinase)
EnsemblGeneIds (GRCh38): ENSG00000065534
EnsemblGeneIds (GRCh37): ENSG00000065534
OMIM: 600922, Gene2Phenotype
MYLK is in 9 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

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.

* Unable to find any other reports.
Created: 23 Nov 2020, 12:07 a.m. | Last Modified: 23 Nov 2020, 12:07 a.m.
Panel Version: 0.28

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Megacystis-microcolon-intestinal hypoperistalsis syndrome, 249210

Publications

Created: 23 Nov 2020, 12:07 a.m.
Last Modified: 23 Nov 2020, 12:07 a.m.
Panel version: 0.28

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome, 249210
OMIM
600922
Clinvar variants
Variants in MYLK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Nov 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MYLK were set to

24 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: MYLK was added gene: MYLK was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: MYLK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYLK were set to Megacystis-microcolon-intestinal hypoperistalsis syndrome, 249210