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  3. MYLPF
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Arthrogryposis

Gene: MYLPF

Amber List (moderate evidence)
MYLPF (myosin light chain, phosphorylatable, fast skeletal muscle)
EnsemblGeneIds (GRCh38): ENSG00000180209
EnsemblGeneIds (GRCh37): ENSG00000180209
OMIM: 617378, Gene2Phenotype
MYLPF is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Comment when marking as ready: Two variants each for bi-allelic and mono-allelic gene-disease association.
Created: 3 Aug 2020, 5:57 a.m. | Last Modified: 3 Aug 2020, 5:57 a.m.
Panel Version: 0.199

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Distal arthrogryposis type 1C (DA1C), MIM#619110

Created: 3 Aug 2020, 5:57 a.m.
Last Modified: 3 Aug 2020, 5:57 a.m.
Panel version: 0.243

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

2 different homozygous variants reported in 6 consanguineous families with DA and an additional 2 different dominantly inherited variants in 2 families, with supporting animal model.
Sources: Expert Review
Created: 3 Aug 2020, 5:42 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Distal arthrogryoposis

Publications

Created: 3 Aug 2020, 5:42 a.m.

Panel version: 0.197

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Distal arthrogryposis type 1C (DA1C), MIM#619110
OMIM
617378
Clinvar variants
Variants in MYLPF
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MYLPF were changed from Distal arthrogryoposis to Distal arthrogryposis type 1C (DA1C), MIM#619110

3 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Aug 2020, Gel status: 0

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

Crystle Lee (Victorian Clinical Genetics Services)

gene: MYLPF was added gene: MYLPF was added to Arthrogryposis. Sources: Expert Review Mode of inheritance for gene: MYLPF was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYLPF were set to 32707087 Phenotypes for gene: MYLPF were set to Distal arthrogryoposis Review for gene: MYLPF was set to GREEN