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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 5 panels

2 reviews

julien thevenon (CHU de Dijon)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Green review from expert, and more than 3 unrelated family reports, with functional evidence.
Created: 3 May 2016, 9:51 a.m.
Comment on mode of inheritance: See publications.
Created: 3 May 2016, 9:42 a.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Arthrogryposis, distal, type 1B, 614335
  • Lethal congenital contracture syndrome 4, 614915
  • Distal Arthrogryposis
OMIM
160794
Clinvar variants
Variants in MYBPC1
Penetrance
Complete
Publications
  • PMID: 20045868 (two variants identified in two families with Distal arthrogryposis type I)
  • PMID: 26661508 (consanguineous Israeli-Druze family)
  • PMID: 25679999 (two large Chinese families with autosomal dominant distal arthrogryposis type 2(DA2) with incomplete penetrance and variable expressivity)
  • PMID: 23873045 - MYBPC1 zebrafish models displaye a critical role in slow skeletal muscle development
  • PMID: 22610851 (two unrelated inbred Bedouin tribes with lethal congenital contractural syndrome).
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

21 Dec 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

MYBPC1 was added to Arthrogryposispanel. Source: Expert

21 Dec 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

MYBPC1 was added to Arthrogryposispanel. Source: Expert list

3 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

3 May 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for MYBPC1 were set to PMID: 20045868 (two variants identified in two families with Distal arthrogryposis type I); PMID: 26661508 (consanguineous Israeli-Druze family); PMID: 25679999 (two large Chinese families with autosomal dominant distal arthrogryposis type 2(DA2) with incomplete penetrance and variable expressivity); PMID: 23873045 - MYBPC1 zebrafish models displaye a critical role in slow skeletal muscle development; PMID: 22610851 (two unrelated inbred Bedouin tribes with lethal congenital contractural syndrome).

3 May 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for MYBPC1 were set to PMID: 20045868; PMID: 26661508 (consanguineous Israeli-Druze family); PMID: 25679999 (two large Chinese families with autosomal dominant distal arthrogryposis type 2(DA2) with incomplete penetrance and variable expressivity); PMID: 23873045 - MYBPC1 zebrafish models displaye a critical role in slow skeletal muscle development; PMID: 22610851 (two unrelated inbred Bedouin tribes with lethal congenital contractural syndrome).

3 May 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

3 May 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for MYBPC1 were set to PMID: 20045868; PMID: 26661508 (consanguineous Israeli-Druze family); PMID: 25679999 (two large Chinese families with autosomal dominant distal arthrogryposis type 2(DA2) with incomplete penetrance and variable expressivity)

3 May 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for MYBPC1 were set to PMID: 20045868; 26661508

28 Jul 2015, Gel status: 2

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene MYBPC1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

28 Jul 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

MYBPC1 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

MYBPC1 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen