Neuromuscular arthrogryposis

Gene: MYBPC1

Green List (high evidence)

MYBPC1 (myosin binding protein C, slow type)
EnsemblGeneIds (GRCh38): ENSG00000196091
EnsemblGeneIds (GRCh37): ENSG00000196091
OMIM: 160794, Gene2Phenotype
MYBPC1 is in 6 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital May 2019 on behalf of London South GLH for the GMS Neurology specialist test group
Created: 16 May 2019, 9:33 p.m.

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4, 614915

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • London South GLH
Phenotypes
  • Lethal congenital contracture syndrome 4, 614915
  • Arthrogryposis, distal, type 1B 614335
OMIM
160794
Clinvar variants
Variants in MYBPC1
Penetrance
None
Panels with this gene

History Filter Activity

16 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MYBPC1.

16 May 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to MYBPC1. Rating Changed from Red List (low evidence) to Green List (high evidence)

16 May 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: MYBPC1 was added gene: MYBPC1 was added to Neuromuscular arthrogryposis. Sources: London South GLH Mode of inheritance for gene: MYBPC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MYBPC1 were set to Lethal congenital contracture syndrome 4, 614915; Arthrogryposis, distal, type 1B 614335