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Intellectual disability update Jan 2018

Gene: MYBPC1

Red List (low evidence)
MYBPC1 (myosin binding protein C, slow type)
EnsemblGeneIds (GRCh38): ENSG00000196091
EnsemblGeneIds (GRCh37): ENSG00000196091
OMIM: 160794, Gene2Phenotype
MYBPC1 is in 5 panels

1 review

Sarah Leigh (Genomics England Curator)

Associated with phenotypes in OMIM, not in G2P. At least 2 homozygous variants reported in Lethal congenital contracture syndrome 4 614915. c.556G>A (p.E286K)(NM_002465) was reported in 4 members of an extended consanguineous family with a milder phenotype which included speech delay in 1/2 surviving cases
Created: 28 Feb 2018, 10:29 a.m.
Created: 28 Feb 2018, 10:29 a.m.

Panel version: 0.155

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Arthrogryposis, distal, type 1B 614335 AD
  • Lethal congenital contracture syndrome 4 614915 AR
OMIM
160794
Clinvar variants
Variants in MYBPC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for MYBPC1 were set to 26661508

28 Feb 2018, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Feb 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for MYBPC1 were set to Arthrogryposis, distal, type 1B 614335 AD; Lethal congenital contracture syndrome 4 614915 AR

28 Feb 2018, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for MYBPC1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

18 Dec 2017, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

MYBPC1 was added to Intellectual disability update Jan 2018 panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Amber

18 Dec 2017, Gel status: 2

Created

Ellen McDonagh (Genomics England Curator)

MYBPC1 was created by Ellen McDonagh