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  2. Bleeding and Platelet Disorders
  3. MYLK
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Bleeding and Platelet Disorders

Gene: MYLK

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Gene-disease association assessed as DEFINITIVE by ClinGen.
Created: 15 Aug 2020, 8:12 a.m. | Last Modified: 15 Aug 2020, 8:12 a.m.
Panel Version: 0.124

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Aortic aneurysm, familial thoracic 7, MIM# 613780

Created: 15 Aug 2020, 8:12 a.m.
Last Modified: 15 Aug 2020, 8:12 a.m.
Panel version: 0.124

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Aortic aneurysm, familial thoracic 7, MIM# 613780
OMIM
600922
Clinvar variants
Variants in MYLK
Penetrance
None
Panels with this gene

History Filter Activity

15 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mylk has been classified as Green List (High Evidence).

15 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MYLK were changed from to Aortic aneurysm, familial thoracic 7, MIM# 613780

15 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MYLK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MYLK was added gene: MYLK was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MYLK was set to Unknown