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  3. MYLPF
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Fetal anomalies

Gene: MYLPF

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

3 reviews

Ida Ertmanska (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for MYLPF is MYL11.
Created: 19 Mar 2026, 3:44 p.m. | Last Modified: 19 Mar 2026, 3:44 p.m.
Panel Version: 6.165
Created: 19 Mar 2026, 3:44 p.m.
Last Modified: 19 Mar 2026, 3:44 p.m.
Panel version: 6.165

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.150

Esther Kinning (NHS Greater Glasgow and Clyde)

Green List (high evidence)

32707087- 10 cases, 6 families recessive, distal arthrogrypsosis with amyoplasia, 9 dominant cases only 5 tested (1 family). Congenital contractures.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis, distal, type 1C, OMIM:617378

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Arthrogryposis, distal, type 1C, OMIM:617378
Tags
new-gene-name
OMIM
617378
Clinvar variants
Variants in MYLPF
Penetrance
None
Panels with this gene

History Filter Activity

19 Mar 2026, Gel status: 3

Added Tag

Ida Ertmanska (Genomics England Curator)

Tag new-gene-name tag was added to gene: MYLPF.

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Arthrogryposis, distal, type 1C, OMIM:617378 for gene: MYLPF

9 Mar 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: MYLPF was added gene: MYLPF was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: MYLPF was set to BIALLELIC, autosomal or pseudoautosomal