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  3. MYLPF
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Fetal anomalies

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

Two variants each for bi-allelic and mono-allelic gene-disease association.
Created: 22 Nov 2021, 9:08 a.m. | Last Modified: 22 Nov 2021, 9:08 a.m.
Panel Version: 0.660
Created: 22 Nov 2021, 9:08 a.m.
Last Modified: 22 Nov 2021, 9:08 a.m.
Panel version: 0.660

Krithika Murali (Victorian Clinical Genetics Services)

I don't know

MYLPF gene variants associated with dominant and recessive distal arthrogryposis

6 consanguineous families - homozygous for c.470G>T (p.Cys157Phe) or c.469T>C (p.Cys157Arg) variants

7th family - hetrozygous c.487G>A (p.Gly163Ser) variant

8th family - hetrozygous c.98C>T (p.Ala33Val) variant
Sources: Expert list, Literature
Created: 22 Nov 2021, 4:43 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Publications

Created: 22 Nov 2021, 4:43 a.m.

Panel version: 0.612

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Expert list
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

22 Nov 2021, 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).

22 Nov 2021, 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).

22 Nov 2021, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: MYLPF was added gene: MYLPF was added to Fetal anomalies. Sources: Expert list,Literature 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 arthrogryposis type 1C (DA1C), MIM#619110 Review for gene: MYLPF was set to AMBER